Phenotypes associated with this allele

• Allele Symbol: Prpf31^tm1.1Bha
• Allele Name: targeted mutation 1.1, Shomi Bhattacharya
• Allele ID: MGI:4438621
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Prpf31^tm1.1Bha/Prpf31^tm1.1Bha	involves: 129S2/SvPas * BALB/c * C57BL/6J	MGI:4438629
ht2	Prpf31^tm1.1Bha/Prpf31^+	involves: 129S2/SvPas	MGI:4950568

Genotype
MGI:4438629

hm1

• Allelic Composition: Prpf31^tm1.1Bha/Prpf31^tm1.1Bha
• Genetic Background: involves: 129S2/SvPas * BALB/c * C57BL/6J

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

mortality/aging

preweaning lethality, complete penetrance ( J:158261 )

• no mice are produced (no time point given)

Genotype
MGI:4950568

ht2

• Allelic Composition: Prpf31^tm1.1Bha/Prpf31⁺
• Genetic Background: involves: 129S2/SvPas

vision/eye

abnormal retina pigment epithelium morphology ( J:171561 )

• loss of the basal infoldings and accumulation of amorphous deposits between the RPE and Bruch's membrane are seen at 12 months of age

retina degeneration ( J:171561 )

• late onset degeneration of the retinal pigment epithelium

pigmentation

abnormal retina pigment epithelium morphology ( J:171561 )

• loss of the basal infoldings and accumulation of amorphous deposits between the RPE and Bruch's membrane are seen at 12 months of age

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
retinitis pigmentosa 11		DOID:0110408	OMIM:600138	J:171561