Phenotypes Associated with This Genotype

Genotype
MGI:3715214

• Allelic Composition: Gnat2^cpfl3/Gnat2^cpfl3
• Genetic Background: ALS/LtJ

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

vision/eye

abnormal retina vasculature morphology ( J:122428 )

• dilated retinal veins and slightly constricted arterioles are observed in 8 month old mice

abnormal photoreceptor outer segment morphology ( J:122428 )

• outer segments are vacuolated by 27 weeks of age

abnormal retina cone cell morphology ( J:122428 )

• reduced labeling for alpha-transducin in cone outer segments as determined by immunocytochemistry, however, PNA staining reveals a normal number of cone outer segments

abnormal cone electrophysiology ( J:122428 )

• photopic responses are 25% of normal by 4 weeks of age and completely diminished by 9 months

• scotopic (rod) responses show some diminution, but are near normal by 9 months of age

nervous system

abnormal photoreceptor outer segment morphology ( J:122428 )

• outer segments are vacuolated by 27 weeks of age

abnormal retina cone cell morphology ( J:122428 )

• reduced labeling for alpha-transducin in cone outer segments as determined by immunocytochemistry, however, PNA staining reveals a normal number of cone outer segments

cardiovascular system

abnormal retina vasculature morphology ( J:122428 )

• dilated retinal veins and slightly constricted arterioles are observed in 8 month old mice

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
achromatopsia 4		DOID:0110010	OMIM:613856	J:122428