Family Identifier |
NMF193 |
Synonym(s) |
C57BL/6J-Nmf193/J; JR#4821 |
Synopsis |
Mottled retina indicative of pan retinal photoreceptor degeneration. |
Gene Symbol |
Nmf193 (View MGI Record) |
Gene |
Neuroscience mutagenesis facility193 |
Allele Symbol |
Nmf193 (View MGI Record) |
Allele |
Neuroscience mutagenesis facility193 |
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 a mottled retina, indicating potential retinal degeneration in NMF193 mutants. Male or female mutants have been produced and the colony is maintained through regular breeding.
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Pathology Report |
Standard pathology work-up on two mutants (74 days of age) revealed slight, bilateral, pan retinal photoreceptor degeneration of the outer nuclear layer, which consisted of 8 instead of 11 cell layers.
Eye histology on two additional mutants (224 and 432 days of age) showed thinning of the peripheral retina, which was more severe in the older mutant. No other abnormalities were noted. |
HERITABILITY AND MAPPING INFORMATION
|
Background Strain |
C57BL/6J |
Heritability Mode |
Dominant |
Heritability Status |
Proven; 1 mating between an affected and a wild-type mouse produced 13 affected mice in a total of 21 progeny; 2 matings between affected mice resulted in 10 affected mice in a total of 15 progeny.
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STATUS INFORMATION
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Mutant Status |
Cryopreserved Embryos
|
Comments |
Please note: 1- 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; 2- 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; 3- (16) NMF193 have been requested by and distributed to 3 investigators.
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Contact e-Mail Address |
nmf-mice@jax.org |