ATM
Primary Info
Mutation
Mouse studies
DNA sequencing


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I. DNA amplification
Kit
GE:illustra GenomiPhi V2 DNA Amplification Kit

II. PCR
Primer details
Exon No. Forward sequence Reverse sequence Expected PCR
product size (bp)		 Genomic regions amplified by ePCR with
the primer
2-3 CCTTTGACCAGAATGTGCCTC GCCAAATTCATATGCAAGGC 586bp chr11:108098168+108098753
4 GCTCTTTGTGATGGCATGAAC AACTCACGCGACAGTAATCTG 291bp chr11:108099817+108100107
5 CCATAATTTGCCAATTTCTTCTC AAATTAAGGGTCAGTTCGATAACC 464bp chr11:108106255+108106718
6 TTCTGTATGGGATTATGGAATATTTAAG GAAAGTGTTGGACTTGGTTGTC 426bp chr11:108114582+108115007
7 TTCAGCATACCACTTCATAACTGTTC TGGCTAAGTAACATTATCAACCAGAG 455bp chr11:108115431+108115885
8 GGACCAGGTGTCTTCTAACGC AAAGGAATAGTTGCATGTACAGAGTC 412bp chr11:108117577+108117988
9 TACGAGATCGTGCTGTTCCAC GGTTGAGATGAAAGGATTCCAC 361bp chr11:108119561+108119921
10 ACTATGGAAATGATGGTGATTCTC GAAAAGCATCTGAAATAGAATTTGAC 626bp chr11:108121306+108121931
11 CCTTAACTAAATGTATGTGCCAGG GGTTAGATCTGGGAAATTCTGC 413bp chr11:108122467+108122879
12 TGGTTGTCCTCCTTAAATTGTCC AACAACCTCTTCCCTGGCTAAC 427bp chr11:108123362+108123788
13 TGATATAAGTAGGTCTCAAAGTCCGAAG AAATGAAGCCTCCCACCATC 524bp chr11:108124355+108124878
14 TCCAGGATATGCCACCTTTAAC AAAAGAGAAAGGGTTAACCTGC 381bp chr11:108126805+108127185
15 TTTGCAAGAACAGAGTATAAGATTTG CAATTCCCTGCATAGGCTACAC 564bp chr11:108127987+108128550
16 AAGATAGAGAAAACACTGTCTGCC GCACCTGGCCTTAATTTCCAC 312bp chr11:108129633+108129944
17 CCAGCCTGATTAGGTAAATTTTG GAAAGGAACAATCCTAAAAGGCTATAC 386bp chr11:108137817+108138202
18 TGAAGAGGAGGAAATTTGAGTTAATATG TTCTTCAAAGACACCATGTGATTC 384bp chr11:108139052+108139435
19 GTGATCTGCCTGCTTCAGCC AAACATCTTGGTCACGACGATAC 359bp chr11:108141657+108142015
20 TCTTGAACTTCTGAAACCACTATCG CTTCAAGCGACTGAGGGAAAC 446bp chr11:108141850+108142295
21 TTGGCAAGGTGAGTATGTTGG TGAATAAGGATCAGCCTACGG 361bp chr11:108143103+108143463
22 GCCTTAAAACTTTGCTTGAGGTG CTACTGCCATCTGCAGCATTC 316bp chr11:108143315+108143630
23 GAAAGAGCTAGTATGTTATTATGTCTCACAG CAATCAATTCATACAGTTGTTTTAGAGC 394bp chr11:108150088+108150481
24 AGGATTAGTGAGTAGGAGGTTTCTG CTGCTTTCCAATATTCCCAAC 448bp chr11:108151591+108152038
25 AAAGTTGAATGAATGTTGTTTCTAGG ATGGTATGTGTGTTGCTGGTG 372bp chr11:108153327+108153698
26 GGTGGTGGTATGTTCTAAGCTTTC CAATCAGAGGGAGACAACACG 646bp chr11:108154739+108155384
27 AGTCTACAGGTTGGCTGCATAG CATTGAAGGTGTCAACCAATAAAC 387bp chr11:108158135+108158521
28 CTGGACTGTGATATGTCATTTGTG TCACTAAAGTGTCACAAGATTCTGTTC 515bp chr11:108159533+108160047
29 TGAGAACAGAATCTTGTGACACTTTAG GGCGGACAGAGTGAGTCTTTG 618bp chr11:108160018+108160635
30 TGGAAGCTTAGAGCTGCCTATTC TTTGACTACCTCTCTACTTCAGCAC 595bp chr11:108163153+108163747
31 TTAACCTCAGTACCCATCTTGTAGTAG TATAGGCATGAGCCAATGTGC 528bp chr11:108163830+108164357
32 TCTTCCTTGATTAGTAGTAATAGAGACATGAG TGACAATGAAACCAAGAGCAAG 356bp chr11:108165518+108165873
33 TGTATTAAGGAAGTTCAGATTCATTCC CAATTCTGTCATTGCGTGAAC 485bp chr11:108167839+108168323
34 GCCTTAAGGTTAATTCTTGAAGTACAGA CACCATTATATCAAGTGTCTGGCA 488bp chr11:108170321+108170808
35 GGAATTGCAGTTGCAGTGATTAG TCCCTGGATTTATGAAATATGGC 508bp chr11:108172163+108172670
36 AAAGGTAAACATTGCCTCCAG CCGAAGCTGAAACCTAATGC 491bp chr11:108173441+108173931
37 TGGCCTAGACTGGAAATAAACAG GGGATTCCATCTTAAATCCATC 513bp chr11:108175140+108175652
38 CCAGAACCTTATAGCATAGTGGGAG AACACTTTGCAACACCTTCACC 298bp chr11:108178521+108178818
39 TCAGATTCTCTGATAGGTTTGAGG AATAAGCATTCCTATTATTTCAGAACAG 590bp chr11:108180652+108181241
40 TTCACAAATTCCTTTTCCATCC TGATGCTTAGTCCAGTAAGTAAATTCAG 390bp chr11:108182960+108183349
41-42 TTGGGAGTTACATATTGGTAATGATAC GGAGTATCCCTGAATGTTTAGCC 547bp chr11:108186451+108186997
43 TTTTGGGATTTTAAATGATATTGTG CTGCTTATTGCTATCTTACTGAAGG 553bp chr11:108187970+108188522
44 TTTGTCCTTTGGTGAAGCTATTTATAC ATCTCTTCATCAATGCAAATCC 297bp chr11:108190597+108190893
45 AAACATTTATTTCCCTGAAAACCTC TCACTATTGGTAACAGAAAAGCTG 243bp chr11:108191964+108192206
46 TTCTAGTCTTGTCACTACAAAAGTTCC GACATTTCTTTTTCCCTCAGGC 457bp chr11:108195904+108196360
47 GTCATGCAGACAGAGAGGTCC CGACCACATGATGGACTGATAG 531bp chr11:108196636+108197166
48 GTATGGCAAAAGCAGATGAGG TCCACCCTAGAGACTATACAGAGCTAC 417bp chr11:108198223+108198639
49 CGTGGGTTGGACAAGTTTGC AAAGACCAAGTCACTCTTTCTATGC 456bp chr11:108199595+108200050
50 TATTCCCTTTATAATCCTTAGAAGTTTG CAAAGAGGTATACACGATTCCTGAC 443bp chr11:108200795+108201237
51 AACCACTTGTGCTAATAGAGGAGC CAGTGGGTAGAGCGTGTATGC 442bp chr11:108202061+108202502
52 CCCACTGCAGTATCTAGACAGTAATACAC CCTTGAACCGATTTTAGATGGC 380bp chr11:108202496+108202875
53 TTTGAAAGGCACCTAAGTCATTG TATGTATGCCAGAAGATTATCAGAAG 591bp chr11:108203285+108203875
54 GACTCTGAGCTGCATAGTGGC GGTGTAGAACAGAAGGCAATGG 470bp chr11:108204445+108204914
55 TTAAAGTTACGAGCGTGAGCC ACTGATGCAAAGGACGTCAAC 653bp chr11:108205523+108206175
56 TGCTCAGATTGGTTTGAGTGC AATATGGGCATGAGCCACTTC 300bp chr11:108206471+108206770
57 CCTCCAAGGAGCTTTGTCTTC TTTCACTCACACACTTTCATTCTG 464bp chr11:108213802+108214265
58 TTCCCTGTCCAGACTGTTAGC ATGATTTAATAATGAAGATGGGTTGG 467bp chr11:108216320+108216786
59 CCGGTTATGCACATCATTTAAGTAG TTGGTAGGCAAACAACATTCC 307bp chr11:108217860+108218166
60 TTCATAGAACGTAGGTAACATGTGG ATTGATAAGGCACTGGAATACG 519bp chr11:108224379+108224897
61 GGTGCATGCCTGTAATCAATAG TGAAGCAGTGCTCTTCACATC 413bp chr11:108225283+108225695
62 CATGAAGTGTGCATGATGTTTG AAGGTTTCAGTGAGGTGAACAG 368bp chr11:108235667+108236034
63a GAATGCAAACGAAATCTCAGG CCCACAGCAACCTTCACCTC 777bp chr11:108235926+108236702

III. Sequencing reaction
Kit
BigDye® Terminator v3.1 Cycle Sequencing Kit
Primer details
Exon No. Forward sequence Reverse sequence Expected PCR
product size (bp)		 Genomic regions amplified by ePCR with
the primer
2-3 CCTTTGACCAGAATGTGCCTC GCCAAATTCATATGCAAGGC 586bp chr11:108098168+108098753
4 GCTCTTTGTGATGGCATGAAC AACTCACGCGACAGTAATCTG 291bp chr11:108099817+108100107
5 CCATAATTTGCCAATTTCTTCTC AAATTAAGGGTCAGTTCGATAACC 464bp chr11:108106255+108106718
6 TTCTGTATGGGATTATGGAATATTTAAG GAAAGTGTTGGACTTGGTTGTC 426bp chr11:108114582+108115007
7 TTCAGCATACCACTTCATAACTGTTC TGGCTAAGTAACATTATCAACCAGAG 455bp chr11:108115431+108115885
8 GGACCAGGTGTCTTCTAACGC AAAGGAATAGTTGCATGTACAGAGTC 412bp chr11:108117577+108117988
9 TACGAGATCGTGCTGTTCCAC GGTTGAGATGAAAGGATTCCAC 361bp chr11:108119561+108119921
10 ACAGATTGCAACCCAATTAATATC GAAAAGCATCTGAAATAGAATTTGAC 501bp chr11:108121431+108121931
11 CCTTAACTAAATGTATGTGCCAGG GGTTAGATCTGGGAAATTCTGC 413bp chr11:108122467+108122879
12 TGGTTGTCCTCCTTAAATTGTCC AACAACCTCTTCCCTGGCTAAC 427bp chr11:108123362+108123788
13 TGATATAAGTAGGTCTCAAAGTCCGAAG AAATGAAGCCTCCCACCATC 524bp chr11:108124355+108124878
14 TCCAGGATATGCCACCTTTAAC AAAAGAGAAAGGGTTAACCTGC 381bp chr11:108126805+108127185
15 TTTGCAAGAACAGAGTATAAGATTTG CAATTCCCTGCATAGGCTACAC 564bp chr11:108127987+108128550
16 AAGATAGAGAAAACACTGTCTGCC GCACCTGGCCTTAATTTCCAC 312bp chr11:108129633+108129944
17 CCAGCCTGATTAGGTAAATTTTG GAAAGGAACAATCCTAAAAGGCTATAC 386bp chr11:108137817+108138202
18 TGAAGAGGAGGAAATTTGAGTTAATATG TTCTTCAAAGACACCATGTGATTC 384bp chr11:108139052+108139435
19 GTGATCTGCCTGCTTCAGCC AAACATCTTGGTCACGACGATAC 359bp chr11:108141657+108142015
20 TCTTGAACTTCTGAAACCACTATCG CTTCAAGCGACTGAGGGAAAC 446bp chr11:108141850+108142295
21 TTGGCAAGGTGAGTATGTTGG TGAATAAGGATCAGCCTACGG 361bp chr11:108143103+108143463
22 GCCTTAAAACTTTGCTTGAGGTG CTACTGCCATCTGCAGCATTC 316bp chr11:108143315+108143630
23 GAAAGAGCTAGTATGTTATTATGTCTCACAG CAATCAATTCATACAGTTGTTTTAGAGC 394bp chr11:108150088+108150481
24 AGGATTAGTGAGTAGGAGGTTTCTG CTGCTTTCCAATATTCCCAAC 448bp chr11:108151591+108152038
25 AAAGTTGAATGAATGTTGTTTCTAGG ATGGTATGTGTGTTGCTGGTG 372bp chr11:108153327+108153698
26 GGTGGTGGTATGTTCTAAGCTTTC CAATCAGAGGGAGACAACACG 646bp chr11:108154739+108155384
27 AGTCTACAGGTTGGCTGCATAG CATTGAAGGTGTCAACCAATAAAC 387bp chr11:108158135+108158521
28 CTGGACTGTGATATGTCATTTGTG TCACTAAAGTGTCACAAGATTCTGTTC 515bp chr11:108159533+108160047
29 TGAGAACAGAATCTTGTGACACTTTAG GGCGGACAGAGTGAGTCTTTG 618bp chr11:108160018+108160635
30 TGGAAGCTTAGAGCTGCCTATTC TTTGACTACCTCTCTACTTCAGCAC 595bp chr11:108163153+108163747
31 TTAACCTCAGTACCCATCTTGTAGTAG TATAGGCATGAGCCAATGTGC 528bp chr11:108163830+108164357
32 TCTTCCTTGATTAGTAGTAATAGAGACATGAG TGACAATGAAACCAAGAGCAAG 356bp chr11:108165518+108165873
33 TGTATTAAGGAAGTTCAGATTCATTCC CAATTCTGTCATTGCGTGAAC 485bp chr11:108167839+108168323
34 GCCTTAAGGTTAATTCTTGAAGTACAGA CACCATTATATCAAGTGTCTGGCA 488bp chr11:108170321+108170808
35 GGAATTGCAGTTGCAGTGATTAG TCCCTGGATTTATGAAATATGGC 508bp chr11:108172163+108172670
36 AAAGGTAAACATTGCCTCCAG CCGAAGCTGAAACCTAATGC 491bp chr11:108173441+108173931
37 TGGCCTAGACTGGAAATAAACAG GGGATTCCATCTTAAATCCATC 513bp chr11:108175140+108175652
38 CCAGAACCTTATAGCATAGTGGGAG AACACTTTGCAACACCTTCACC 298bp chr11:108178521+108178818
39 TCAGATTCTCTGATAGGTTTGAGG AATAAGCATTCCTATTATTTCAGAACAG 590bp chr11:108180652+108181241
40 TTCACAAATTCCTTTTCCATCC TGATGCTTAGTCCAGTAAGTAAATTCAG 390bp chr11:108182960+108183349
41-42 TTGGGAGTTACATATTGGTAATGATAC GGAGTATCCCTGAATGTTTAGCC 547bp chr11:108186451+108186997
43 TTTTGGGATTTTAAATGATATTGTG TCAAGTCAAATTTCTTACCTGACG 297bp chr11:108187970+108188266
44 TTTGTCCTTTGGTGAAGCTATTTATAC ATCTCTTCATCAATGCAAATCC 297bp chr11:108190597+108190893
45 AAACATTTATTTCCCTGAAAACCTC TCACTATTGGTAACAGAAAAGCTG 243bp chr11:108191964+108192206
46 CTCTATGTCGTGGCATTCAGA GACATTTCTTTTTCCCTCAGGC 344bp chr11:108196017+108196360
47 TTCCCATATGTCATTTTCATTTC AAATAACAGTAAAACACTAATCCAGCC 236bp chr11:108196760+108196995
48 GTATGGCAAAAGCAGATGAGG TCCACCCTAGAGACTATACAGAGCTAC 417bp chr11:108198223+108198639
49 CGTGGGTTGGACAAGTTTGC AAAGACCAAGTCACTCTTTCTATGC 456bp chr11:108199595+108200050
50 TATTCCCTTTATAATCCTTAGAAGTTTG CAAAGAGGTATACACGATTCCTGAC 443bp chr11:108200795+108201237
51 AACCACTTGTGCTAATAGAGGAGC CAGTGGGTAGAGCGTGTATGC 442bp chr11:108202061+108202502
52 CCCACTGCAGTATCTAGACAGTAATACAC CCTTGAACCGATTTTAGATGGC 380bp chr11:108202496+108202875
53 TTTGAAAGGCACCTAAGTCATTG TATGTATGCCAGAAGATTATCAGAAG 591bp chr11:108203285+108203875
54 GACTCTGAGCTGCATAGTGGC GGTGTAGAACAGAAGGCAATGG 470bp chr11:108204445+108204914
55 TTAAAGTTACGAGCGTGAGCC ACTGATGCAAAGGACGTCAAC 653bp chr11:108205523+108206175
56 TGCTCAGATTGGTTTGAGTGC AATATGGGCATGAGCCACTTC 300bp chr11:108206471+108206770
57 CCTCCAAGGAGCTTTGTCTTC TTTCACTCACACACTTTCATTCTG 464bp chr11:108213802+108214265
58 TTCCCTGTCCAGACTGTTAGC ATGATTTAATAATGAAGATGGGTTGG 467bp chr11:108216320+108216786
59 CCGGTTATGCACATCATTTAAGTAG TTGGTAGGCAAACAACATTCC 307bp chr11:108217860+108218166
60 TTCATAGAACGTAGGTAACATGTGG ACTTCAGCCTCTTGAGCAGC 335bp chr11:108224379+108224713
61 GGTGCATGCCTGTAATCAATAG TGAAGCAGTGCTCTTCACATC 413bp chr11:108225283+108225695
62 CATGAAGTGTGCATGATGTTTG AAGGTTTCAGTGAGGTGAACAG 368bp chr11:108235667+108236034
63a GAATGCAAACGAAATCTCAGG CCCACAGCAACCTTCACCTC 777bp chr11:108235926+108236702

IV. Ethanol precipitation

V. Sequencing analysis