Phenotypes Associated with This Genotype

Genotype
MGI:7571513

• Allelic Composition: Slc38a8^em1Lmon/Slc38a8^em1Lmon
• Genetic Background: B6.Cg-Slc38a8^em1Lmon

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

vision/eye

abnormal choroid pigmentation ( J:343795 )

• some depigmented patches are seen in retinal whole mounts corresponding to areas with choroid hypopigmentation

abnormal retina pigment epithelium morphology ( J:343795 )

• some empty areas are present in the retinal pigment epithelium (RPE) cells, identified as large vacuoles

• however, the number of pigmented melanosomes per RPE is no different from wild-type

decreased a-wave amplitude ( J:343795 )

• ERG amplitudes are smaller in responses elicited by the higher intensity flashes, with the maximum mean value of the scotopic mixed a-wave amplitude reduced by 21% in adults

• however, amplitude of a-wave in cone-driven ERG response by a scotopic double flash protocol is not different

decreased b-wave amplitude ( J:343795 )

• the mean maximum value of the scotopic b-wave amplitude is reduced is adults

• however, amplitude of b-wave in cone-driven ERG response by a scotopic double flash protocol is not different

decreased visual acuity ( J:343795 )

• mice exhibit reduced visual acuity

• however, no loss of photoreceptors is seen and retinal structure is maintained and no signs of anterior segment dysgenesis is seen

nervous system

abnormal lateral geniculate nucleus morphology ( J:343795 )

• the dorsal lateral geniculate nucleus (dLGN) is smaller compared to heterozygotes

abnormal innervation ( J:343795 )

• mice show a deficit in retinal axonal projections, with misrouting of the ganglion cell ipsilateral projections

• ipsilateral projection is reduced both at the optic chiasm at +18.5 dpc and in brain targets in adults, especially in the superior colliculus and in the dLGN

• the caudal dLGN shows an ectopic patch of contralateral projections at the periphery, adjacent to the optic tract

pigmentation

pigmentation phenotype ( J:343795 )

N • pigmentation of coat, iris, and melanin content in the eye are normal

abnormal choroid pigmentation ( J:343795 )

• some depigmented patches are seen in retinal whole mounts corresponding to areas with choroid hypopigmentation

abnormal retina pigment epithelium morphology ( J:343795 )

• some empty areas are present in the retinal pigment epithelium (RPE) cells, identified as large vacuoles

• however, the number of pigmented melanosomes per RPE is no different from wild-type

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
foveal hypoplasia 2		DOID:0070531	OMIM:609218	J:343795