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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Opa1M1Bewi
mutation 1, Bernd Wissinger
MGI:4412032
Summary 3 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Opa1M1Bewi/Opa1M1Bewi involves: C3HeB/FeJ * C57BL/6 MGI:4412039
ht2
Opa1M1Bewi/Opa1+ involves: C3HeB/FeJ MGI:4412041
ht3
Opa1M1Bewi/Opa1+ involves: C3HeB/FeJ * C57BL/6 MGI:4412040


Genotype
MGI:4412039
hm1
Allelic
Composition
Opa1M1Bewi/Opa1M1Bewi
Genetic
Background
involves: C3HeB/FeJ * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Opa1M1Bewi mutation (0 available); any Opa1 mutation (25 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• although present at E3.5, no mice are detected between E12 and E17 indicating that mice die between E3.5 and E12

embryo
• at E8.5 and E9.5

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

growth/size/body
• at E8.5 and E9.5




Genotype
MGI:4412041
ht2
Allelic
Composition
Opa1M1Bewi/Opa1+
Genetic
Background
involves: C3HeB/FeJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Opa1M1Bewi mutation (0 available); any Opa1 mutation (25 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
• in 52% of mice
• 33% of mice exhibit resting tremor of the upper limb unlike wild-type mice
• tremors are more prominent in males
• 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
• under regular housing conditions

adipose tissue

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




Genotype
MGI:4412040
ht3
Allelic
Composition
Opa1M1Bewi/Opa1+
Genetic
Background
involves: C3HeB/FeJ * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Opa1M1Bewi mutation (0 available); any Opa1 mutation (25 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
• 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
• at 8 months, optics 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
• mice exhibit gliosis of the optic nerve head unlike wild-type mice

nervous system
• mice exhibit gliosis of the optic nerve head unlike wild-type mice
• 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
• at 8 months, optics 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
• mice exhibit gliosis of the optic nerve head unlike wild-type mice

hearing/vestibular/ear
N
• mice exhibit normal hearing

Mouse Models of Human Disease
OMIM ID Ref(s)
Optic Atrophy 1; OPA1 165500 J:154966





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last database update
09/13/2016
MGI 6.05
The Jackson Laboratory