Symbol
Name
ID

Prph2
peripherin 2
MGI:102791

Phenotype annotations related to nervous system

!	Indicates phenotype varies with strain background.
	Darker colors indicate more annotations

Human Phenotypes	Encephalocele	Photophobia	Aplasia/Hypoplasia of the cerebellar vermis	Abnormality of neuronal migration	Hemiplegia/hemiparesis	Intellectual disability	Hyperreflexia	Global developmental delay	Seizure
Disease(s) Associated with PRPH2	Encephalocele	Photophobia	Aplasia/Hypoplasia of the cerebellar vermis	Abnormality of neuronal migration	Hemiplegia/hemiparesis	Intellectual disability	Hyperreflexia	Global developmental delay	Seizure
Leber congenital amaurosis
patterned macular dystrophy 1
retinitis pigmentosa
vitelliform macular dystrophy

Mouse Phenotypes

increased microglial cell activation

abnormal Muller cell morphology

absent retina cone cells

decreased retina rod cell number

absent retina rod cells

increased retina cone cell number

abnormal retina photoreceptor morphology

abnormal photoreceptor inner segment morphology

abnormal retina cone cell inner segment morphology

disorganized photoreceptor inner segment

short photoreceptor inner segment

abnormal photoreceptor outer segment morphology

abnormal photoreceptor outer segment disc membrane morphology

absent photoreceptor outer segment

short photoreceptor outer segment

abnormal retina cone cell outer segment morphology

abnormal retina rod cell outer segment morphology

disorganized photoreceptor outer segment

abnormal retina cone cell morphology

retina photoreceptor degeneration

abnormal synapse morphology

Availability

Mouse Genotype

Prph2^em1Sal/Prph2^em1Sal

Prph2^Nmf193/Prph2^Nmf193

Prph2^Rd2/Prph2^Rd2

Prph2^tm1.1Itl/Prph2^tm1.1Itl

Prph2^tm1Nmc/Prph2^tm1Nmc

Prph2^tm4.1Itl/Prph2^tm4.1Itl

Prph2^em1Sal/Prph2⁺

Prph2^Nmf193/Prph2⁺

Prph2^Rd2/Prph2⁺

Prph2^tm1.1Itl/Prph2⁺

Prph2^tm1Nmc/Prph2⁺

Prph2^tm4.1Itl/Prph2⁺

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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