Recql4^tm1Abe
Targeted Allele Detail

Summary

• Symbol: Recql4^tm1Abe
• Name: RecQ protein-like 4; targeted mutation 1, Masumi Abe
• MGI ID: MGI:2677314
• Gene: Recql4 Location: Chr15:76587753-76594748 bp, - strand Genetic Position: Chr15, 36.28 cM, cytoband D3
• Alliance: Recql4^tm1Abe page

Mutation origin

• 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⁺

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutation: Disruption caused by insertion of vector
• Mutation details: 6 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)

Disease models

Expression

In Structures Affected by this Mutation:

9 anatomical structure(s)

Find Mice (IMSR)

• 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: 46 strains or lines available

References

• 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: 3 reference(s)