Phenotypes Associated with This Genotype

Genotype
MGI:5605714

• Allelic Composition: Prom1^rd19/Prom1^rd19
• Genetic Background: B6.BXD83-Prom1^rd19/BocJ

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

vision/eye

abnormal eye pigmentation ( J:215591 )

abnormal retina morphology ( J:215591 )

abnormal retina blood vessel morphology ( J:215591 )

• attenuated retinal vessels by 2 months of age

retina photoreceptor degeneration ( J:215591 )

• at 3 weeks of age there is 20-30% photoreceptor loss with slow progressive loss thereafter

retina degeneration ( J:215591 )

• by 2 months of age homozygotes exhibit areas of depigmentation and attenuated retinal vessels

abnormal electroretinogram waveform feature ( J:215591 )

• at 1 month of age there is a lower ERG a-wave but near normal b-wave, and by six months of age neither cone or rod ERG waveforms are detectable

decreased a-wave amplitude ( J:215591 )

• at 1 month of age there is a lower ERG a-wave but near normal b-wave

absent a-wave ( J:215591 )

• by six months of age neither cone or rod ERG waveforms are detectable

absent b-wave ( J:215591 )

• by six months of age neither cone or rod ERG waveforms are detectable

abnormal cone electrophysiology ( J:215591 )

abnormal rod electrophysiology ( J:215591 )

pigmentation

abnormal eye pigmentation ( J:215591 )

cardiovascular system

abnormal retina blood vessel morphology ( J:215591 )

• attenuated retinal vessels by 2 months of age

nervous system

retina photoreceptor degeneration ( J:215591 )

• at 3 weeks of age there is 20-30% photoreceptor loss with slow progressive loss thereafter

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
retinitis pigmentosa 41		DOID:0110376	OMIM:612095	J:215591