CByJ.Cg-Celsr1^ctb/GrsrJ

Stock number: 016111
Product name: curly tail bobber
Research areas: Dermatology Research, Developmental Biology Research, Reproductive Biology Research, Sensorineural Research

Description

This recessive spontaneous single G deletion, predicted to result in a frameshift mutation, causes head tossing, circling, otitis media, hearing impairment, abnormal hair pattern, curled tail, reduced fertility, reduced in utero viability, and smaller body size.

Detailed description

Curly tail bobber homozygotes may display head tossing, circling, otitis media, hearing impairment, abnormal hair pattern, curled/wavy tail or small size in comparison to littermates. The fur, most noticeably on the rump, can grow in reverse orientation leading to an overall ruffled coat appearance. The phenotype varies from animal to animal. Some mice that exhibited only small body size and wavy tails proved to be homozygotes, and the head bobbing and circling phenotypes also range from severe to mild. Homozygotes seldom breed, although they do live a normal lifespan. Histology on two males at ten months of age found otitis media, testicular atrophy and mild hydrocephalus. Cross sections of ears from three homozygotes found otitis media in all three and auditory brainstem response (ABR) analysis at four and five weeks of age found moderate to severe hearing loss. No hearing loss or abnormal phenotype was found in heterozygotes. Heterozygous intercrosses yield fewer than 21% homozygotes.

Development

The curly tail bobber mutation arose spontaneously in the CByJ.Cg-Foxn1^nu/J strain in 1999, when that strain was at backcross generation N21. This mutant subline was maintained by sibling intercrossing for five generations then oocytes from a homozygous female were transplanted into a host female, which was bred to BALB/cByJ. The obligate heterozygous offspring were intercrossed and the line was then maintained again by sibling intercrossing. The nude phenotype was never seen in this mutant subline. In 2014 sperm was cryopreserved from homozygous males at generation N21+F5N1F21.

Allele

Symbol: Celsr1^ctb
Name: curly tail bobber
MGI accession ID: MGI:5577174
Generation method: Spontaneous
Attributes: Null/Knockout
Marker symbol: Celsr1
Marker name: cadherin, EGF LAG seven-pass G-type receptor 1
Chromosome: 15
Strain of origin: CByJ.Cg-Foxn1^nu/J
Molecular note: This spontaneous single-nucleotide deletion of G (C forward strand) at chromosome 15 position 85,959,170 bp (GRCm38) causes a frameshift and subsequent premature stop codon.