C57BL/6J-Wnt7a^px-J/GrsrJ

Stock number: 016098
Research areas: Developmental Biology Research, Internal/Organ Research, Mouse/Human Gene Homologs

Description

This spontaneous mutation in Wnt7a provides a model for Fuhrmann syndrome, with malformed, shortened forelimbs, missing digits, and sterility.

Detailed description

Mice homozygous for the postaxial hemimelia Jackson mutation have malformed, shortened forelimbs and missing or shortened digits of the front feet. A few have missing digits from the hind feet. Both males and females are sterile although ovaries from homozygotes can be successfully used in ovarian transplantation for breeding and sperm from homozygotes can be used successfully for in vitro fertilization, although it appears to have reduced motility.

Development

Postaxial hemimelia Jackson arose spontaneously in the C57BL/6J inbred strain at The Jackson Laboratory where it was identified in 2007. This mutation has been maintained on this inbred background ever since.

Allele

Symbol: Wnt7a^px-J
Name: postaxial hemimelia Jackson
MGI accession ID: MGI:5315307
Generation method: Spontaneous
Marker symbol: Wnt7a
Marker name: wingless-type MMTV integration site family, member 7A
Chromosome: 6
Strain of origin: C57BL/6J
Molecular note: This spontaneous mutation in chromosome 6 has a G-to-A transition at 91,394,552 (GRCm38) causing the replacement of arginine with tryptophan at amino acid 143 (p.R143W), and also has a 23,106 bp intragenic deletion, 91,371,385-91,394,492, that encompasses a portion of exon 3 and removes the 5' end of intron 3 including the splice donor site.