Phenotypes Associated with This Genotype

Genotype
MGI:5619363

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

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

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

nervous system

abnormal retina photoreceptor morphology ( J:214194 )

♀ • stout appearance

decreased retina cone cell number ( J:214194 )

♀

disorganized photoreceptor outer segment ( J:214194 )

♀

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