Mouse Genome Informatics
hm1
    Opa1M1Bewi/Opa1M1Bewi
involves: C3HeB/FeJ * C57BL/6
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
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

embryogenesis
• 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
• at E8.5 and E9.5


Mouse Genome Informatics
ht2
    Opa1M1Bewi/Opa1+
involves: C3HeB/FeJ
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
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
• under regular housing conditions

adipose tissue

muscle
N
• mice exhibit normal skeletal muscle morphology and muscle mitochondria DNA (J:154865)


Mouse Genome Informatics
ht3
    Opa1M1Bewi/Opa1+
involves: C3HeB/FeJ * C57BL/6
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
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 (J:154966)

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