Mice homozygous for the hydrocephalus 3 spontaneous mutation of the hydrocephalus inducing gene (Hydinhy3) may be useful in neurological and developmental studies.
George B Witman, Univ. of Massachusetts Medical School
Mice homozygous for the hydrocephalus 3 spontaneous mutation of the hydrocephalus inducing gene (Hydinhy3) are usually identifiable at three to five days. Those with frank hydrocephalus develop hydrocephalus with early perinatal onset, and most animals die by three to five weeks of age. Penetrance is incomplete. Hydrocephalus is associated with a central pair defect impairing ciliary motility and fluid transport in the brain. Hydin-deficiency also impairsthe beat pattern of ependymal and tracheal cilia. These Hydinhy3 mutant mice may be useful in neurological and developmental studies.
In an attempt to offer alleles on well-characterized or multiple genetic backgrounds, alleles are frequently moved to a genetic background different from that on which an allele was first characterized. It should be noted that the phenotype could vary from that originally described. We will modify the strain description if necessary as published results become available.
The hydrocephalus 3 mutation (hy3) arose spontaneously in a heterogeneous stock of laboratory mice held by Dr. Gruneberg in 1943. The mutation has been identified as a single base pair deletion in the Hydin gene that causes a premature stop resulting in the loss of 89% of the full-length gene product. The mutation was received at The Jackson Laboratory by Dr. M.C. Green from Dr. Gruneberg in 1963. The strain was maintained by brother x sister test matings and was at F76 in 1983. In 1995 the inbred strain stopped breeding and an outcross was made to B6CBACaF1 Aw/A to rescue the mutant strain. Tested males were then continuously backcrossed to the hybrid (and assigned as Stock No. 002703). Later, these mice were obtained by Dr. Michael L. Robinson (Columbus Children's Research Institute, The Ohio State University) and subsequently backcrossed to FVB/N for 11 generations (presumably converting the A locus to the FVB/N alleles). Then, Dr. George B. Witman and Dr. Karl-Ferdinand Lechtreck (University of Massachusetts Medical School) obtained these FVB/N-congenic Hydinhy3 mutant mice and confirmed they still carried the Hydinhy3 mutation. In 2008, these FVB/N-congenic Hydinhy3 mice were sent to The Jackson Laboratory (and assigned Stock No. 008343).
|Allele Name||hydrocephalus 3|
|Gene Symbol and Name||Hydin, HYDIN, axonemal central pair apparatus protein|
|Gene Synonym(s)||1700034M11Rik; 1700034M11Rik; 4930545D19Rik; 4930545D19Rik; AC069308.21, gene model 4; AC069308.21gm4; CILD5; HYDIN1; HYDIN2; PPP1R31; RIKEN cDNA 1700034M11 gene; RIKEN cDNA 4930545D19 gene; hy-3; hy-3; hy3; hy3; hydrocephalus 3; hydrocephalus with rhinitis; hyrh; hyrh|
|Strain of Origin||Not Specified|
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