Mice homozygous for this spontaneous mutation have smaller bodies and develop hydrocephaly and rhinitis, dying by 3 weeks of age.
Hydinhyrh arose spontaneously on the B10.RIII-H2r H2-T18b/(71NS)SnJ strain (Stock No. 000457) at The Jackson Laboratory in 2001, when that strain was at generation F109, and were intercrossed for 3 generations then the mutation was maintained by backcrossing an homozygous ovarian transplant host with C57BL/6J and intercrossing the obligate heterozygotes. This strain reached generation N5 in 2008.
|Allele Name||hydrocephalus with rhinitis|
|Gene Symbol and Name||Hydin, HYDIN, axonemal central pair apparatus protein|
|Strain of Origin||B10.RIII-H2r H2-T18b/(71NS)SnJ|
|Molecular Note||This spontaneous C-to-T transition at position 110,575,054 (GRCm38) results in a change from arginine to a premature stop codon at residue 3806 (p.R3806*).|