Phenotypes Associated with This Genotype

Genotype
MGI:3826270

• Allelic Composition: Mdm1^m1J/Mdm1^m1J
• Genetic Background: PERA/EiJ

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

vision/eye

short photoreceptor outer segment ( J:142852 )

• the length of the outer segment is reduced slight at 9 months but progressively reduced with age and is absent at 19 months

abnormal retina pigment epithelium morphology ( J:142852 )

• at 9 months, the apical processes of the retinal pigmented epithelium are absent, and lipofuscin-like granules are present

abnormal retina pigmentation ( J:142852 )

• at 9 months, the apical processes of the retinal pigmented epithelium are absent, and lipofuscin-like granules are present

retina pigment epithelium hyperplasia ( J:142852 )

• at 19 month, the retinal pigmented epithelium is atrophic and hypo-pigmented compared to in wild-type mice

abnormal retina inner nuclear layer morphology ( J:142852 )

• at 9 months, swollen and necrotic cells are found in the inner nuclear layer

thin retina inner nuclear layer ( J:142852 )

• at 9 months

thin retina outer nuclear layer ( J:142852 )

• the width of the outer nuclear layer is reduced slight at 9 months but progressively reduced with age and is absent at 19 months

abnormal retina outer plexiform layer morphology ( J:142852 )

• at 4 months, occasional swelling in the synaptic terminal in the outer plexiform layer is observed

• at 9 months, many synaptic terminals are swollen and lucent with some appearing necrotic

retina degeneration ( J:142852 )

• at 14 months, mice exhibit signs of retinal degeneration such as vessel attenuation, alterations in the retinal pigmented epithelium and the presence of retinal dots unlike in wild-type mice

abnormal eye electrophysiology ( J:142852 )

• between 8 and 16 months, mice exhibit a progressive loss of amplitude in dark-adapted and light-adapted electroretinogram response compared to wild-type mice

abnormal cone electrophysiology ( J:142852 )

• at 22 months, rod and cone response is undetectable

abnormal rod electrophysiology ( J:142852 )

• at 16 months, rod response is minimal

• at 22 months, rod and cone response is undetectable

nervous system

short photoreceptor outer segment ( J:142852 )

• the length of the outer segment is reduced slight at 9 months but progressively reduced with age and is absent at 19 months

pigmentation

abnormal retina pigment epithelium morphology ( J:142852 )

• at 9 months, the apical processes of the retinal pigmented epithelium are absent, and lipofuscin-like granules are present

abnormal retina pigmentation ( J:142852 )

• at 9 months, the apical processes of the retinal pigmented epithelium are absent, and lipofuscin-like granules are present

retina pigment epithelium hyperplasia ( J:142852 )

• at 19 month, the retinal pigmented epithelium is atrophic and hypo-pigmented compared to in wild-type mice

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
retinal degeneration		DOID:8466		J:142852