Krt71^Ca-Rin
Spontaneous Allele Detail

Summary

• Symbol: Krt71^Ca-Rin
• Name: keratin 71; caracul Rinshoken
• MGI ID: MGI:2681032
• Gene: Krt71 Location: Chr15:101642384-101651532 bp, - strand Genetic Position: Chr15, 57.0 cM
• Alliance: Krt71^Ca-Rin page

Mutation origin

• Strain of Origin: C57BL/6Slc

Mutation description

• Allele Type: Spontaneous
• Mutation: Intragenic deletion
• Mutation details: Sequence analysis identified the spontaneous deletion of asparagine codon 139 or 140, through the deletion of CAA / ACA / AAC from the AACAACAA sequence at codong nucleotides 415-422. The deleted codon is located in the alpha-helical rod domain. Reduced levels of transcript were detected by Northern blot and RT-PCR analyses of RNA isolated from the skin of 5 week old homozygous mutant mice. Immunohistochemical analysis showed protein in the inner root sheath and, ectopically, in the hair shaft, indicating abnormal protein localization. (J:86407)
• Inheritance: Dominant

Expression

In Structures Affected by this Mutation:

6 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 Krt71 Mutation: 43 strains or lines available

References

• Original: J:86407 Kikkawa Y, et al., A small deletion hotspot in the type II keratin gene mK6irs1/Krt2-6g on mouse chromosome 15, a candidate for causing the wavy hair of the caracul (Ca) mutation. Genetics. 2003 Oct;165(2):721-33
• All: 1 reference(s)