Phenotypes Associated with This Genotype

Genotype
MGI:3033935

• Allelic Composition: Vsx1^tm2Mci/Vsx1^tm2Mci
• Genetic Background: either: (involves: 129S1/Sv * 129S1/SvImJ * 129X1/SvJ) or (involves: 129S1/Sv * 129X1/SvJ * Black Swiss)

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

vision/eye

vision/eye phenotype ( J:88182 )

N • no corneal defects are observed, either grossly or histologically

abnormal retina cone bipolar cell morphology ( J:88182 )

• incomplete terminal differentiation of OFF-cone bipolar cells in the retina as indicated by a reduction in expression of several markers

abnormal eye electrophysiology ( J:88182 )

• reduced b-wave amplitude in response to white flashes

• putatively associated with incomplete differentiation and function of OFF cone bipolar cells

nervous system

abnormal retina cone bipolar cell morphology ( J:88182 )

• incomplete terminal differentiation of OFF-cone bipolar cells in the retina as indicated by a reduction in expression of several markers

behavior/neurological

behavior/neurological phenotype ( J:88182 )

N • no overt behavioral or neurological phenotypes observed

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
NOT	keratoconus	DOID:10126	OMIM:148300 OMIM:608586 OMIM:608932 OMIM:609271 OMIM:614622 OMIM:614623 OMIM:614628 OMIM:614629	J:88182