C3H/HeJSxJ

Stock number: 001824
Research areas: Mouse/Human Gene Homologs, Sensorineural Research

Development

This subline of C3H/HeJ was imported from Dr. David Sachs at NIH in 1990 when it was 31 generations removed from the founders he had received. Mice were sibling intercrossed for an additional 2 generations to re-derive and cryopreserve embryos.

Allele

Symbol: Pde6b^rd1
Name: retinal degeneration 1
MGI accession ID: MGI:1856373
Generation method: Spontaneous
Synonyms: rd; rodless retina; rd-1; rd1; Pdeb^rd1
Marker symbol: Pde6b
Marker name: phosphodiesterase 6B, cGMP, rod receptor, beta polypeptide
Chromosome: 5
Strain of origin: various
Molecular note: Two mutations have been identified in rd1 mice. A murine leukimia virus (Xmv-28) insertion in reverse orientation in intron 1 is found in all mouse strains with the rd1 phenotype. Further, a nonsense mutation (C-to-A transversion) in codon 347 that results in a truncation eliminating more than half of the predicted encoded protein, including the catalytic domain, has been identified in all rd1 strains of mice. A specific degradation of mutant transcript during or after pre-mRNA splicing is suggested.
General note: The following inbred strains are known to be homozygous for Pde6b: C3H sublines, CBA/J, FVB/NJ, PL/J, SB, SJL/J, and SWR/J.