Phenotypes Associated with This Genotype

Genotype
MGI:5620352

• Allelic Composition: Rp2^tm1.2Asw/Y
• Genetic Background: involves: 129S/SvEv * C57BL/6

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

nervous system

abnormal retina photoreceptor morphology ( J:214194 )

♂ • stout appearance

decreased retina cone cell number ( J:214194 )

♂

disorganized photoreceptor outer segment ( J:214194 )

♂

vision/eye

vision/eye phenotype ( J:214194 )

♂N • photoreceptors exhibit a normal 9+0 microtubule arrangement in cilium of photoreceptors

abnormal retina photoreceptor morphology ( J:214194 )

♂ • stout appearance

decreased retina cone cell number ( J:214194 )

♂

disorganized photoreceptor outer segment ( J:214194 )

♂

thin retina outer nuclear layer ( J:214194 )

♂ • progressive decrease at 5 and 9 months

♂ • however, thickness is normal at 1 month

decreased a-wave amplitude ( J:214194 )

♂

decreased b-wave amplitude ( J:214194 )

♂

abnormal cone electrophysiology ( J:214194 )

♂ • reduced b-wave amplitude at 1, 4 and 7 months

abnormal rod electrophysiology ( J:214194 )

♂ • reduced a- and b-wave amplitudes at 4 and 7 months

♂ • however, amplitudes are normal at 1 month

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
retinitis pigmentosa 2		DOID:0110415	OMIM:312600	J:214194