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.
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 Name||modifier of curly bare|
|Allele Type||Spontaneous (Null/Knockout)|
|Gene Symbol and Name||Areg, amphiregulin|
|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 Name||curly bare|
|Allele Type||Spontaneous (Not Applicable)|
|Gene Symbol and Name||Rhbdf2, rhomboid 5 homolog 2|
|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 Rhbdf2tm1a(KOMP)Wtsi indicates that this is a gain of function mutation.|
When using the B6.Cg-AregMcub Rhbdf2cub/J mouse strain in a publication, please cite the originating article(s) and include JAX stock #003628 in your Materials and Methods section.
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