Phenotypes Associated with This Genotype

Genotype
MGI:6690862

• Allelic Composition: Eml1^tvrm360/Eml1^tvrm360
• Genetic Background: C57BL/6J-Eml1^tvrm360/Pjn

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

vision/eye

abnormal retina morphology ( J:297748 )

abnormal Muller cell morphology ( J:297748 )

• at 8 and 14 days of age Muller cell bodies are scattered through the inner nuclear layer

abnormal retina horizontal cell morphology ( J:297748 )

abnormal retina development ( J:297748 )

• incorrect positioning of some photoreceptor cell nuclei early in development results in ectopic photoreceptors and other disruptions to the retinal architecture

abnormal retina progenitor cell morphology ( J:297748 )

• at P0 some mitotic retinal cells were found to be displaced within the neuroblastic layer

abnormal retina neuronal layer morphology ( J:297748 )

abnormal photoreceptor outer segment disc membrane morphology ( J:297748 )

decreased a-wave amplitude ( J:297748 )

• at all flash intensities

decreased b-wave amplitude ( J:297748 )

• at all flash intensities

abnormal cone electrophysiology ( J:297748 )

• the b wave to a wave ratio is decreased relative to controls at all flash intensities, suggesting a defect in secondary neuronal signalling

abnormal rod electrophysiology ( J:297748 )

nervous system

obstructive hydrocephaly ( J:297748 )

• a bulging fontanelle and enlargement of the head within 1 to 2 weeks of birth and most homozygotes die prior to 3 weeks of age

dilated lateral ventricle ( J:297748 )

abnormal Muller cell morphology ( J:297748 )

• at 8 and 14 days of age Muller cell bodies are scattered through the inner nuclear layer

abnormal retina horizontal cell morphology ( J:297748 )

abnormal photoreceptor outer segment disc membrane morphology ( J:297748 )

ectopic neuron ( J:297748 )

• in addition to subcortical nodular bilateral heterotopia, some mitotic retinal cells are displaced within the neuroblastic layer at birth, and ectopic photoreceptors are found in the inner nuclear layer and GCL during postnatal development and were found to persist at 2 and 4 weeks of age

mortality/aging

premature death ( J:297748 )

preweaning lethality, incomplete penetrance ( J:297748 )

• most homozygotes die by 3 weeks of age, some survive to 6 weeks of age and very few survive to 3 months of age

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
subcortical band heterotopia		DOID:0111169	OMIM:600348	J:297748