Family Identifier |
NMF246 |
Synonym(s) |
JR#5296; C57BL/6J-nmf246/J |
Synopsis |
Grainy retina, retinal spots. |
Gene Symbol |
nmf246 (View MGI Record) |
Gene |
neuroscience mutagenesis facility246 |
Allele Symbol |
nmf246 (View MGI Record) |
Allele |
neuroscience mutagenesis facility246 |
Abnormal Assay(s) |
Assay: Indirect ophthalmoscopy
Domain(s): Eye/Vision
|
Phenotype Description |
Routine ophthalmoscopic examination at 12 weeks of age revealed mutants with a grainy retina and/or retinal spots. Male or female mutants have been identified, and the colony is maintained through heterozygote matings.
|
Pathology Report |
Standard pathology work-up on two mutants (112 or 401 days of age) revealed retinal degeneration.
|
HERITABILITY AND MAPPING INFORMATION
|
Background Strain |
C57BL/6J |
Heritability Mode |
Recessive |
Heritability Status |
Proven; (with reduced penetrance); 2 het x het matings resulted in 6 mutants in a total of 37 progeny. |
STATUS INFORMATION
|
Mutant Status |
Cryopreserved Embryos
|
Comments |
Please note: While this mutation is available, it has not yet been chromosomally mapped - an important part of determining whether it is allelic with a previously characterized mutation. (1) NMF246 has been requested by and distributed to 1 investigator. |
Contact e-Mail Address |
nmf-mice@jax.org |