STRAIN INFORMATION
Family Identifier
 NMF144
Synonym(s)
 Crb1rd8 ; B6;129-Crb1rd8 /J; JR#4852
Synopsis
 Retinal spots; the phenotype represents a Crb1rd8like mutation, however the expression is milder in NMF144 than that observed in Crb1rd8mutants.
Gene Symbol
 Crb1 (View MGI Record)
Gene
 Crumbs homolog 1
Allele Symbol
 Crb1rd8 (View MGI Record)
Allele
 retinal degeneration 8
Abnormal Assay(s)
 Assay: Indirect ophthalmoscopy

   Domain(s): Eye/Vision

Assay: Eye histology

   Domain(s): Eye/Vision
Phenotype Description
 Routine ophthalmoscopic examination at 8 weeks of age revealed retinal spots predominantly in the inferior medial quadrant of the fundus, similar to those observed in Crb1rd8 mutants. The results of subsequent complementation tests and sequence analyses showed that these mutants represent the same mutation as rd8, an allele of Crb1, although the phenotypic expression observed in NMF144 is milder than that observed in Crb1rd8 mutants. Male or female mutants have been produced; the mice are fertile, and a colony can be maintained through regular breeding.
Pathology Report
 Standard pathology work-up on two mutants (69 or 109 days of age) showed bilateral retinal dysplasia in the older mutant and unilateral retinal dysplasia in the younger mutant.
HERITABILITY AND MAPPING INFORMATION
Background Strain
 B6;129
Heritability Mode
 Recessive
Heritability Status
 Proven; 3 heterozygote by heterozygote matings produced 10 affected mice in a total of 28 progeny; 1 homozygote x homozygote mating produced 11 affected mice in a total of 11 progeny.
Chromosome
 1
Molecular Interval
 see Crb1
Map
STATUS INFORMATION
Mutant Status
 Cryopreserved Embryos
Comments
 Please note: 1-The majority of frozen NMF embryos is obtained through matings between homozygous (or heterozygous) mutant males and wild-type females; if recovery of mutants is requested, the mice will be shipped as soon as possible following wean without further phenotype or genotype testing. NMF embryos are supplied subject to the General Terms and Conditions of Sale posted at www.jaxmice.jax.org. For prices or further information, please inquire at srp@jax.org or nmf-mice@jax.org.2-This mutant mouse line is derived from embryonic stem cells treated with ethylmethanesulfonate (EMS).
Contact e-Mail Address
 nmf-mice@jax.org