CByJ.Cg-Ift56^hop/J

Stock number: 002718
Research areas: Developmental Biology Research, Neurobiology Research, Reproductive Biology Research

Description

Mice homozygous for the hop-sterile spontaneous mutation (hop) exhibit preaxial polydactyly of both fore- and hindfeet, and abnormal sperm tail development.

Detailed description

Mice homozygous for the hop-sterile spontaneous mutation (hop) are viable, females are fertile but males are sterile. Homozygous mutant mice walk with a characteristic hopping gait using the hindlegs simultaneously. There is preaxial polydactyly of both fore- and hindfeet. Defects in spermatogenesis result in abnormal sperm tail development. Tailed sperm are completely absent from the lumen of the testicular tubules. The second meiotic division is frequently abnormal or incomplete, often leaving four centrioles per cell. These centrioles usually fail to form flagella, and tail development is arrested.

Development

The hop-sterile (hop) mutation arose spontaneously in an unirradiated stock at the MRC Radiobiology Unit at Harwell in 1967. In 1996 this strain was imported to The Jackson Laboratory from Dr. Mary Ann Handel. At that time this mutation was not on a defined genetic background and the heterozygous offspring from the first backcross of this mixed background to BALB/c were received. These were intercrossed and the mutation has been maintained via backcross-intercross to BALB/cByJ ever since. In 1998 the strain reached N3, before the end of 1999 it reached N5, and by 2003 it had been backcrossed 11 times to BALB/cByJ.

Allele

Symbol: Ift56^hop
Name: hop sterile
MGI accession ID: MGI:1856054
Generation method: Spontaneous
Attributes: Null/Knockout
Marker symbol: Ift56
Marker name: intraflagellar transport 56
Chromosome: 6
Strain of origin: Not Specified
Molecular note: The molecular lesion is a C-to-A point mutation (c.1290C>A) that changes a tyrosine codon to a stop codon (p.Y430*) in exon 15. This mutation arose spontaneously in an unirradiated stock at the MRC Radiobiology Unit at Harwell in 1967. RT-PCR indicates expression of the mRNA was reduced 5.7-fold compared to that of the wild-type mRNA in MEFs.