About   Help   FAQ
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 (10 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)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support. 		last database update
12/10/2024
MGI 6.24 		The Jackson Laboratory