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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID 		Rpgrip1nmf247
neuroscience mutagenesis facility, 247
MGI:3511348
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
 		Rpgrip1nmf247/Rpgrip1nmf247 C57BL/6J-Rpgrip1nmf247 MGI:4367266
hm2
 		Rpgrip1nmf247/Rpgrip1nmf247 involves: 129X1/SvJ * C57BL/6J MGI:4367267


Genotype
MGI:4367266
hm1
Allelic
Composition		 Rpgrip1nmf247/Rpgrip1nmf247
Genetic
Background		 C57BL/6J-Rpgrip1nmf247
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rpgrip1nmf247 mutation (1 available); any Rpgrip1 mutation (70 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
vision/eye
absent photoreceptor outer segment ( J:153721 )
• at P7, mice lack an outer segment unlike wild-type mice
• mice rarely develop an outer segment unlike wild-type mice
retina photoreceptor degeneration ( J:153721 )
• rapid and progressive
thin retina outer nuclear layer ( J:153721 )
• at P21, the outer nuclear layer is reduced to 3 to 4 nuclei thickness compared to wild-type mice
retina spots ( J:82238 )
• routine ophthalmoscopic examination of 12 week-old mutants revealed retinal spots
vitreal fibroplasia ( J:82238 )
• routine ophthalomoscopic examination of 12 week-old mutants revealed vitreous fibroplasia
abnormal rod electrophysiology ( J:153721 )
• at P21, b-waves amplitudes are reduced compared to in wild-type mice

nervous system
absent photoreceptor outer segment ( J:153721 )
• at P7, mice lack an outer segment unlike wild-type mice
• mice rarely develop an outer segment unlike wild-type mice
retina photoreceptor degeneration ( J:153721 )
• rapid and progressive

Mouse Models of Human Disease
 DO ID OMIM ID(s) Ref(s)
Leber congenital amaurosis 6 DOID:0110329 OMIM:613826
 J:243745




Genotype
MGI:4367267
hm2
Allelic
Composition		 Rpgrip1nmf247/Rpgrip1nmf247
Genetic
Background		 involves: 129X1/SvJ * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rpgrip1nmf247 mutation (1 available); any Rpgrip1 mutation (70 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
vision/eye
retina photoreceptor degeneration ( J:153721 )
• onset of degeneration occurs earlier than in Rpgrip1tm1Tili homozygotes

nervous system
retina photoreceptor degeneration ( J:153721 )
• onset of degeneration occurs earlier than in Rpgrip1tm1Tili homozygotes




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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Send questions and comments to User Support. 		last database update
04/30/2024
MGI 6.23 		The Jackson Laboratory