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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Prph2tm1Nmc
targeted mutation 1, Niamh McNally
MGI:2182621
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Prph2tm1Nmc/Prph2tm1Nmc involves: 129S1/Sv * 129X1/SvJ MGI:3836163
ht2
Prph2tm1Nmc/Prph2+ involves: 129S1/Sv * 129X1/SvJ MGI:3836162


Genotype
MGI:3836163
hm1
Allelic
Composition
Prph2tm1Nmc/Prph2tm1Nmc
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Prph2tm1Nmc mutation (0 available); any Prph2 mutation (20 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
• at 5 weeks, mice exhibit an increase in apoptosis in the outer nuclear layer unlike in wild-type mice
• at 5 weeks, the outer nuclear layer is only 3 or 4 nuclei thick unlike in wild-type mice
• mice exhibit 4 or 5 rows of photoreceptor nuclei at 1 months and 1 row at 4 months
• absent at 1 month of age

nervous system

cellular
• at 5 weeks, mice exhibit an increase in apoptosis in the outer nuclear layer unlike in wild-type mice

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
retinitis pigmentosa 7 DOID:0110383 OMIM:608133
J:76490




Genotype
MGI:3836162
ht2
Allelic
Composition
Prph2tm1Nmc/Prph2+
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Prph2tm1Nmc mutation (0 available); any Prph2 mutation (20 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
• the outer segment of cells in the outer nuclear layer are disrupted in number and configuration compared to in wild-type mice
• whorl-like structures
• fewer phagosomes are observed than in wild-type mice despite ongoing phagocytosis of the membrane
• at 6 months, the outer nuclear layer (ONL) is only 4 or 5 nuclei thick and there is evidence of ongoing depletion of cells unlike in wild-type mice
• at 10 months, the ONL is only 3 or 4 nuclei thick unlike in wild-type mice
• mice exhibit 9 or 10 rows of photoreceptor nuclei at 2 months, 4 or 5 rows at 6 months, and 2 or 3 rows at 12 months of age indicating a faster degeneration than in Prph2Rd2 heterozygotes
• at 6 months, a- and b-wave of dark-adapted eyes are less than in wild-type mice
• at 10 months, a- and b-waves, maximal dark-adapted responses, and cone-isolated responses are further reduced

nervous system
• the outer segment of cells in the outer nuclear layer are disrupted in number and configuration compared to in wild-type mice
• whorl-like structures

pigmentation
• fewer phagosomes are observed than in wild-type mice despite ongoing phagocytosis of the membrane

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
retinitis pigmentosa 7 DOID:0110383 OMIM:608133
J:76490





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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last database update
06/28/2022
MGI 6.20
The Jackson Laboratory