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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID 		Rpgrip1tm1Tili
targeted mutation 1, Tiansen Li
MGI:2655714
Summary 3 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
 		Rpgrip1tm1Tili/Rpgrip1tm1Tili involves: 129S4/SvJae MGI:6382561
hm2
 		Rpgrip1tm1Tili/Rpgrip1tm1Tili involves: 129S4/SvJae * C57BL/6 MGI:2655715
cx3
 		Rpgrtm1Tili/Rpgrtm1Tili
Rpgrip1tm1Tili/Rpgrip1tm1Tili 		involves: 129S4/SvJae * C57BL/6 MGI:3757643


Genotype
MGI:6382561
hm1
Allelic
Composition		 Rpgrip1tm1Tili/Rpgrip1tm1Tili
Genetic
Background		 involves: 129S4/SvJae
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rpgrip1tm1Tili mutation (0 available); any Rpgrip1 mutation (70 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
vision/eye
retina degeneration ( J:232177 )
• reduced glutamylation of RPGR ORF15 isoform at age P20




Genotype
MGI:2655715
hm2
Allelic
Composition		 Rpgrip1tm1Tili/Rpgrip1tm1Tili
Genetic
Background		 involves: 129S4/SvJae * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rpgrip1tm1Tili mutation (0 available); any Rpgrip1 mutation (70 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype

Ultrastructural examination of Rpgrip1tm1Tili/Rpgrip1tm1Tili mouse photoreceptors

vision/eye
abnormal photoreceptor outer segment morphology ( J:82755 )
• outer segment disks are grossly oversized by P15 and appear disorganized; stacks of disk membranes are frequently arranged parallel to the long axis of the outer segments instead of the normal perpendicular orientation
retina photoreceptor degeneration ( J:82755 )
• near complete loss of photoreceptor cells by 3 months of age
abnormal cone electrophysiology ( J:82755 )
• at 20-30 days of age, cone ERGs show reduced amplitude
abnormal rod electrophysiology ( J:82755 )
• at 20-30 days of age, dark-adapted (rod) ERG analysis shows a greatly reduced maximum amplitude and a reduced sensitivity in mutants

nervous system
abnormal photoreceptor outer segment morphology ( J:82755 )
• outer segment disks are grossly oversized by P15 and appear disorganized; stacks of disk membranes are frequently arranged parallel to the long axis of the outer segments instead of the normal perpendicular orientation
retina photoreceptor degeneration ( J:82755 )
• near complete loss of photoreceptor cells by 3 months of age

Mouse Models of Human Disease
 DO ID OMIM ID(s) Ref(s)
Leber congenital amaurosis 6 DOID:0110329 OMIM:613826
 J:82755




Genotype
MGI:3757643
cx3
Allelic
Composition		 Rpgrtm1Tili/Rpgrtm1Tili
Rpgrip1tm1Tili/Rpgrip1tm1Tili
Genetic
Background		 involves: 129S4/SvJae * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rpgrip1tm1Tili mutation (0 available); any Rpgrip1 mutation (70 available)
Rpgrtm1Tili mutation (0 available); any Rpgr mutation (8 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
vision/eye
retina photoreceptor degeneration ( J:82755 )
• double mutants exhibit a disease phenotype (photoreceptor degeneration) indistinguishable from the single homozygous Rpgrip1 mutant

nervous system
retina photoreceptor degeneration ( J:82755 )
• double mutants exhibit a disease phenotype (photoreceptor degeneration) indistinguishable from the single homozygous Rpgrip1 mutant




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
04/23/2024
MGI 6.23 		The Jackson Laboratory