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Phenotypes Associated with This Genotype
Genotype
MGI:8308849
Allelic
Composition
Opa1tm1.1Csln/Opa1tm1.1Csln
Genetic
Background
C57BL/6J-Opa1tm1.1Csln
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Opa1tm1.1Csln mutation (0 available); any Opa1 mutation (58 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cellular
• separation of inner membranes in optical nerve axons
• loss of cristae in optical nerve axons
• greater quantity of spherical and less variable mitochondria in optic nerve at age 360 days
• vacuolation in optical nerve axons
• disrupted mitochondria in retinal ganglion cell soma
• increase in copy number in retinal tissues
• accumulation of mitophagosomes in retinal ganglion cell soma

growth/size/body
• at age 180 days

nervous system
• greater quantity of spherical and less variable mitochondria in optic nerve at age 360 days
• vacuolation in optical nerve axons
• disrupted mitochondria in retinal ganglion cell soma
• increase in copy number in retinal tissues
• at age 180 days, continuing decline up to age 420 days
• at ages 50 and 360 days
• reduced number of myelinated axons in optic nerve at ages 50 and 360 days
• loose myelin sheath around axons in optic nerve at ages 50 and 360 days

skeleton

vision/eye
• at age 180 days, continuing decline up to age 420 days
• at ages 50 and 360 days
• lower amplitude between peak positive waves (P1) and lowest negative waves (N2) in pattern ERG response at age 180 days, continuing decline up to age 630 days
• lower amplitude of photopic negative response at age 180 days
• normal a- and b-wave amplitudes in photopic ERG response at age 360 days
• lower amplitude between peak positive waves (P1) and lowest negative waves (N2) in pattern ERG response at age 180 days, continuing decline up to age 630 days
• lower amplitude of scotopic negative response at age 180 days
• normal a- and b-wave amplitudes in scotopic ERG response at age 360 days

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
optic atrophy 1 DOID:0111441 OMIM:165500
J:381209


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
01/28/2026
MGI 6.24
The Jackson Laboratory