Family Identifier |
NMF240 |
Synonym(s) |
C57BL/6J-nmf240/J; JR#5095 |
Synopsis |
Mottled retina and atrophied retinal blood vessels.
|
Gene Symbol |
nmf240 (View MGI Record) |
Gene |
neuroscience mutagenesis facility240 |
Allele Symbol |
nmf240 (View MGI Record) |
Allele |
neuroscience mutagenesis facility240 |
Abnormal Assay(s) |
Assay: Indirect ophthalmoscopy
Domain(s): Eye/Vision
|
Phenotype Description |
Routine ophthalmoscopic examination at 8 weeks of age revealed a mottled retina and atrophied retinal blood vessels. Male or female mutants have been produced, however homozygous males are not fertile; therefore, the colony is maintained through homozygote by heterozygote matings.
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Pathology Report |
Standard pathology work-up on two male mutants (145 or 224 days of age) revealed severe bilateral retinal degeneration. Vacuolation was noted in the brains of both animals and in the spinal cord of the younger mouse. Eosinophilic inclusions and dystrophic axons were observed in the brain stem and spinal cord of the older animal. Reduced sperm production and motility were also noted.
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HERITABILITY AND MAPPING INFORMATION
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Background Strain |
C57BL/6J |
Heritability Mode |
Recessive |
Heritability Status |
Proven; 3 heterozygote x heterozygote matings produced 12 mutants in a total of 45 progeny.
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STATUS INFORMATION
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Mutant Status |
Cryopreserved Embryos
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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. (30) NMF240 have been requested by and distributed to 3 investigators.
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Contact e-Mail Address |
nmf-mice@jax.org |