B6.Cg-Areg^Mcub Rhbdf2^cub/J

Stock number: 003628
Product name: B6.Cg-cub-Mcub
Research areas: Dermatology Research

Description

This strain carries both the Areg^Mcub and Rhbdf2^cub spontaneous mutations and exhibits a wavy fur phenotype due to the dominant Areg^Mcub mutation.

Detailed description

Mice homozygous for both curly bare (cub) and the recessive, C57BL/6 allele at the modifier of curly bare locus (mcub) appear hairless or "fuzzy." cub homozygotes that are either heterozygous or homozygous for the dominant, V/Le-derived Mcub allele have wavy fur. cub/+ mice of any Mcub genotype have normal fur. The "breathing" colony of Stock no. 003628 is homozygous for both cub and Mcub, so all the mice exhibit wavy coats. (Stock no. 003826 is maintained segregating for cub and is homozygous for mcub, so the cub/cub mice of that strain are hairless.) Embryos (also designated 003628) have been cryopreserved from a cross of C57BL/6J female mice and males of 003628; pups recovered from these embryos will be heterozygous at both loci and so will have normal fur. Interbreeding of these animals will produce mice of genotypes cub/cub mcub/mcub (hairless); cub/cub Mcub/mcub and cub/cub Mcub/Mcub (both wavy coated); and normal-furred cub/+ mice, 1/4 of which will be Mcub/Mcub, 1/2 Mcub/mcub and 1/4 mcub/mcub; thus the cryopreserved embryos of 003628 can be bred to regenerate both 003628 and 003826.

Development

The cub mutation, which arose in STOCK a/a us/us (stock no. 000319), was identified by the hairless or "fuzzy" appearance of cub/cub mice. A cross was performed to the V/Le linkage testing stock for an allele test with fz, (fuzzy), which was negative. Some of the F2 segregants of this cross displayed wavy fur. This proved to be due to an interaction of cub/cub with a dominant modifier of cub, called Mcub, which was present in the V/Le stock. In the absence of Mcub, cub/cub mice are bare, but in the presence of the modifier they have wavy coats. The 003628 colony is homozygous for both cub and Mcub; 003826 is maintained segregating for cub and lacks Mcub. Embryos (also designated 003628) have been cryopreserved from a cross of C57BL/6J female mice and males of 003628; pups recovered from these embryos will be heterozygous at both loci and so will have normal fur. Interbreeding of these animals can regenerate both 003628 and 003826.

Allele

Symbol: Areg^Mcub
Name: modifier of curly bare
MGI accession ID: MGI:2653137
Generation method: Spontaneous
Attributes: Null/Knockout
Marker symbol: Areg
Marker name: amphiregulin
Chromosome: 5
Strain of origin: V/LeJ
Molecular note: A T to G mutation occured in the G-GT splice donor site of exon 1 disrupting the donor site and resulting in the use of an alternative downstream splice site. The alternative splice site adds 22 nucleotides to the sequence resulting in a frame-shift and introducing a premature stop codon. Mcub is dominant modifier allele that causes a wavy coat in mice homozygous for the cub mutation.

Allele

Symbol: Rhbdf2^cub
Name: curly bare
MGI accession ID: MGI:2653121
Generation method: Spontaneous
Attributes: Null/Knockout; Not Applicable
Marker symbol: Rhbdf2
Marker name: rhomboid 5 homolog 2
Chromosome: 11
Strain of origin: STOCK a us
Molecular note: A spontaneous mutation resulted in a 12,681 bp deletion removing exons 2-6. An aberrant transcript containing exon 1 spliced to exon 7 was detected in homozygous mice. Noncomplementation with Rhbdf2^{tm1a(KOMP)Wtsi} indicates that this is a gain of function mutation.