B6.C3 Pde6b^rd1 Hps4^le/+ +-Lmx1a^dr-8J/J

Stock number: 004202
Research areas: Cardiovascular Research, Dermatology Research, Developmental Biology Research, Hematological Research, Internal/Organ Research, Mouse/Human Gene Homologs, Neurobiology Research, Sensorineural Research

Allele

Symbol: Pde6b^rd1
Name: retinal degeneration 1
MGI accession ID: MGI:1856373
Generation method: Spontaneous
Synonyms: Pdeb^rd1; rd; rd1; rd-1; rodless retina
Marker symbol: Pde6b
Marker name: phosphodiesterase 6B, cGMP, rod receptor, beta polypeptide
Marker synonyms: CSNB3; CSNBAD2; GMP-PDEbeta; nmf137; PDEB; r; rd; rd1; rd10; RP40
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.

Allele

Symbol: Hps4^le
Name: light-ear
MGI accession ID: MGI:1856931
Generation method: Spontaneous
Attributes: Null/Knockout
Synonyms: le; light-ear
Marker symbol: Hps4
Marker name: HPS4, biogenesis of lysosomal organelles complex 3 subunit 2
Marker synonyms: 2010205O06Rik; BLOC-3; BLOC3S2; C130020P05Rik; Hermansky-Pudlak syndrome 4; LE; mKIAA1667
Chromosome: 5
Strain of origin: C3H/HeJ
Molecular note: The underlying mutation responsible for the phenotype in the light ear mouse was identified as a C-to-T substitution that resulted in a nonsense mutation at glutamine codon 50 (p.Q50*). The absence of protein in homozygous mutant animals was demonstrated through immunoblot analysis.

Allele

Symbol: Lmx1a^dr-8J
Name: dreher 8 Jackson
MGI accession ID: MGI:2157969
Generation method: Spontaneous
Marker symbol: Lmx1a
Marker name: LIM homeobox transcription factor 1 alpha
Marker synonyms: DFNA7; LMX1; Lmx1.1; shaker short-tail
Chromosome: 1
Strain of origin: B6.C3-Pde6b^rd1 Hps4^le/J
Molecular note: The deletion of exons 4 and 5 resulted in a frameshift truncation.