Phenotypes associated with this allele

• Allele Symbol: Opa1^M1Bewi
• Allele Name: mutation 1, Bernd Wissinger
• Allele ID: MGI:4412032
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Opa1^M1Bewi/Opa1^M1Bewi	involves: C3HeB/FeJ * C57BL/6	MGI:4412039
ht2	Opa1^M1Bewi/Opa1^+	involves: C3HeB/FeJ	MGI:4412041
ht3	Opa1^M1Bewi/Opa1^+	involves: C3HeB/FeJ * C57BL/6	MGI:4412040

Genotype
MGI:4412039

hm1

• Allelic Composition: Opa1^M1Bewi/Opa1^M1Bewi
• Genetic Background: involves: C3HeB/FeJ * C57BL/6

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

mortality/aging

embryonic lethality, complete penetrance ( J:154966 )

• although present at E3.5, no mice are detected between E12 and E17 indicating that mice die between E3.5 and E12

embryo

embryonic growth retardation ( J:154966 )

• at E8.5 and E9.5

homeostasis/metabolism

edema ( J:154966 )

• liquid accumulates in tissues exhibiting growth retardation until E11.5 and is resorbed by E12.5

growth/size/body

embryonic growth retardation ( J:154966 )

• at E8.5 and E9.5

Genotype
MGI:4412041

ht2

• Allelic Composition: Opa1^M1Bewi/Opa1⁺
• Genetic Background: involves: C3HeB/FeJ

behavior/neurological

limb grasping ( J:154865 )

• in 52% of mice

tremors ( J:154865 )

• 33% of mice exhibit resting tremor of the upper limb unlike wild-type mice

• tremors are more prominent in males

impaired coordination ( J:154865 )

• some mice do not perform as well on a rotarod as wild-type mice

• overall, mice spend less time running on a rotarod compared with wild-type mice

• mice that exhibit tremors also perform worse on a rotarod compared with wild-type mice

growth/size/body

decreased susceptibility to age related obesity ( J:154865 )

• under regular housing conditions

adipose tissue

decreased total body fat amount ( J:154865 )

muscle

muscle phenotype ( J:154865 )

N • mice exhibit normal skeletal muscle morphology and muscle mitochondria DNA

Genotype
MGI:4412040

ht3

• Allelic Composition: Opa1^M1Bewi/Opa1⁺
• Genetic Background: involves: C3HeB/FeJ * C57BL/6

vision/eye

decreased retina ganglion cell number ( J:154966 )

• at 13 months, fewer nuclei are found in the retinal ganglion cell layer compared to in wild-type mice

• at 17 months, one mouse exhibits loss of cells in the retinal ganglion cell layer to 20% to 40% compared with wild-type mice

• however, at 23 months the number of cells in the retinal ganglion layer is normal

• loss of ganglion cell layer cells is age related and begins at 2 months of age

• cell loss at 9 months is primarily in the mid-periphery to periphery of the retina

abnormal optic nerve morphology ( J:154966 )

• at 8 months, optic nerves exhibit loss of large and small axons, disorganized structure, axonal swelling, irregular myelination, distorted axon shapes, increased collageneous material, decreased neurofibrils, and abnormal mitochondria with disorganized cristae unlike in wild-type mice

abnormal optic disk morphology ( J:154966 )

• mice exhibit gliosis of the optic nerve head unlike wild-type mice

thin retina inner plexiform layer ( J:154966 )

abnormal retina nerve fiber layer morphology ( J:154966 )

• thin

nervous system

gliosis ( J:154966 )

• mice exhibit gliosis of the optic nerve head unlike wild-type mice

decreased retina ganglion cell number ( J:154966 )

• at 13 months, fewer nuclei are found in the retinal ganglion cell layer compared to in wild-type mice

• at 17 months, one mouse exhibits loss of cells in the retinal ganglion cell layer to 20% to 40% compared with wild-type mice

• however, at 23 months the number of cells in the retinal ganglion layer is normal

• loss of ganglion cell layer cells is age related and begins at 2 months of age

• cell loss at 9 months is primarily in the mid-periphery to periphery of the retina

abnormal optic nerve morphology ( J:154966 )

• at 8 months, optic nerves exhibit loss of large and small axons, disorganized structure, axonal swelling, irregular myelination, distorted axon shapes, increased collageneous material, decreased neurofibrils, and abnormal mitochondria with disorganized cristae unlike in wild-type mice

abnormal optic disk morphology ( J:154966 )

• mice exhibit gliosis of the optic nerve head unlike wild-type mice

hearing/vestibular/ear

hearing/vestibular/ear phenotype ( J:154966 )

N • mice exhibit normal hearing

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
optic atrophy		DOID:5723	OMIM:PS165500	J:154966