Phenotypes Associated with This Genotype

Genotype
MGI:5604912

• Allelic Composition: Rp1^m1Jdun/Rp1^m1Jdun
• Genetic Background: C57BL/6-Rp1^m1Jdun

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

vision/eye

abnormal retina photoreceptor morphology ( J:214837 )

• the normally thin highly reflective inner segment/outer segment junction is thick and diffuse

disorganized photoreceptor inner segment ( J:214837 )

• seen at 1 month of age

short photoreceptor inner segment ( J:214837 )

• seen at 1 month of age

abnormal photoreceptor outer segment morphology ( J:214837 )

• outer segment disks are disorganized at 2 months of age

• mean photoreceptor axoneme length in the outer segment is shortened at 2 months of age

short photoreceptor outer segment ( J:214837 )

• seen at 1 month of age

disorganized photoreceptor outer segment ( J:214837 )

• seen at 1 month of age

retina photoreceptor degeneration ( J:214837 )

• mice exhibit slow, progressive photoreceptor degeneration throughout their lifespan

retina rod cell degeneration ( J:214837 )

• age-dependent loss of rod nuclei in the outer nuclear layer

thin retina outer nuclear layer ( J:214837 )

• the outer nuclear layer thins with age, such that at 26 months of age, it is dramatically thinner

decreased a-wave amplitude ( J:214837 )

• decreases with age

decreased b-wave amplitude ( J:214837 )

• decreases with age

nervous system

abnormal retina photoreceptor morphology ( J:214837 )

• the normally thin highly reflective inner segment/outer segment junction is thick and diffuse

disorganized photoreceptor inner segment ( J:214837 )

• seen at 1 month of age

short photoreceptor inner segment ( J:214837 )

• seen at 1 month of age

abnormal photoreceptor outer segment morphology ( J:214837 )

• outer segment disks are disorganized at 2 months of age

• mean photoreceptor axoneme length in the outer segment is shortened at 2 months of age

short photoreceptor outer segment ( J:214837 )

• seen at 1 month of age

disorganized photoreceptor outer segment ( J:214837 )

• seen at 1 month of age

retina photoreceptor degeneration ( J:214837 )

• mice exhibit slow, progressive photoreceptor degeneration throughout their lifespan

retina rod cell degeneration ( J:214837 )

• age-dependent loss of rod nuclei in the outer nuclear layer

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
retinitis pigmentosa 1		DOID:0110390	OMIM:180100	J:214837