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Targeted Allele Detail
Symbol: Recql4tm1Abe
Name: RecQ protein-like 4; targeted mutation 1, Masumi Abe
MGI ID: MGI:2677314
Gene: Recql4  Location: Chr15:76703553-76710559 bp, - strand  Genetic Position: Chr15, 36.28 cM, cytoband D3
Germline Transmission:  Earliest citation of germline transmission: J:85574
Parent Cell Line:  R1 (ES Cell)
Strain of Origin:  (129X1/SvJ x 129S1/Sv)F1-Kitl+
Allele Type:    Targeted (Null/knockout)
Mutation:    Disruption caused by insertion of vector
Mutation details6 bp (2045 to 2050) were replaced with a neomycin selection cassette inserted in exon 13 by homologous recombination. The disrupted exon encodes a RecQ helicase domain and has been identified as being mutated in human patients with Rothmund-Thomson syndrome (RTS). RT-PCR analysis of mutant MEFs identified transcript in which exon 12 had spliced to exon 14. Because the length of exon 13 is a multiple of 3 (180 bp), the aberrant transcript is expected to be in frame. In addition to the transcript lacking exon 13, which was determined to be present at a level 1% to 2% that of wild-type, shorter mutant transcripts comprised of exons 1 through 12 were detected. (J:85574)
View phenotypes and curated references for all genotypes (concatenated display).
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Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 0 strains available      Cell Lines: 0 lines available
Carrying any Recql4 Mutation:  24 strains or lines available
Original:  J:85574 Hoki Y, et al., Growth retardation and skin abnormalities of the Recql4-deficient mouse. Hum Mol Genet. 2003 Sep 15;12(18):2293-9
All:  2 reference(s)

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MGI 6.11
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