Phenotypes associated with this allele

• Allele Symbol: Otop2^m1J
• Allele Name: mutation 1 Jackson
• Allele ID: MGI:5581450
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
cx1	Fdxr^m1J/Fdxr^m1J Otop2^m1J/Otop2^m1J	B6;129S-Fdxr^m1J Otop2^m1J/GrsrJ	MGI:5660941

Genotype
MGI:5660941

cx1

• Allelic Composition: Fdxr^m1J/Fdxr^m1J; Otop2^m1J/Otop2^m1J
• Genetic Background: B6;129S-Fdxr^m1J Otop2^m1J/GrsrJ

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

behavior/neurological

abnormal gait ( J:223793 , J:247931 )

• although homozygotes pass swim tests they develop a rigid gait in the hindquarters wherein the hindlegs appear stiffened and held wider apart than normal and stiffness also develops in the hips and in some cases a hopping gait results (J:223793)

• The stiffening in the hindquarters is progressive but does not progress to paralysis and the front legs appear to move in the normal alternating manner (J:223793)

• progressive impairment of posterior gait dynamics (J:247931)

cellular

abnormal mitochondrial morphology ( J:247931 )

• the axonal mitochondria of the surviving retinal ganglion cells at 6 months of age have structural damage, with loss of cristae

abnormal mitochondrial crista morphology ( J:247931 )

nervous system

retina ganglion cell degeneration ( J:247931 )

• although normal at 2 months of age, by 6 months of age 54% of the retinal ganglion cell layer nuclei are gone and transmission electron microscopy shows abnormal cytoplasm, shrunken nuclei, and abnormal chromatin in those that remain, with significant thinning of their myelin sheath

vision/eye

retina ganglion cell degeneration ( J:247931 )

• although normal at 2 months of age, by 6 months of age 54% of the retinal ganglion cell layer nuclei are gone and transmission electron microscopy shows abnormal cytoplasm, shrunken nuclei, and abnormal chromatin in those that remain, with significant thinning of their myelin sheath

decreased visual acuity ( J:247931 )

• decreased optokinetic response score at 15 to 17 weeks of age

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
mitochondrial myopathy		DOID:699	OMIM:251900	J:247931
optic atrophy		DOID:5723	OMIM:PS165500	J:247931