About   Help   FAQ
Phenotypes Associated with This Genotype
Genotype
MGI:5446655
Allelic
Composition
Agtpbp1pcd/Agtpbp1pcd
Genetic
Background
involves: C57BL/6J * C57BR/cdJ * DBA/2J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Agtpbp1pcd mutation (2 available); any Agtpbp1 mutation (66 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
• reduction in the number of calbindin+ amacrine cells at P270, but not earlier time points
• rod bipolar cells show a progressive loss of dendrites that is first observed at P90 and is complete by P270
• progressive loss of photoreceptor rows is evident by P90, however the outer nuclear layer is not completely lost and at P270, 2-3 rows of photoreceptor cells are retained
• smaller terminal end-bulbs and varicosities in the sublamine 5 of the inner plexiform layer are seen from P90
• end-bulbs of axonal terminals are disorganized and smaller
• in the oldest mutants (P180 and P270) some horizontal cell somas are abnormally located in the outer nuclear layer
• progressive reduction in thickness due to photoreceptor death
• magnitude of age-related ERG amplitude reduction is more pronounced in mutants than in wild-type mice, especially at later ages
• ERG amplitudes evoked by high intensity stimuli presented to the dark-adapted eye are smaller than in wild-type at all ages tested for the a-wave and at all ages except P45 for the b-wave
• oscillatory potential amplitudes in response to a light flash are different from wild-type
• amplitudes of the cone ERG b-wave is decreased in mutants at P90 and older
• however, no differences from wild-type in cone flicker ERGs are seen
• amplitude of the rod b-wave is reduced in mutants for all postnatal days measured after P90

nervous system
• reduction in the number of calbindin+ amacrine cells at P270, but not earlier time points
• rod bipolar cells show a progressive loss of dendrites that is first observed at P90 and is complete by P270
• progressive loss of photoreceptor rows is evident by P90, however the outer nuclear layer is not completely lost and at P270, 2-3 rows of photoreceptor cells are retained

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
retinitis pigmentosa DOID:10584 OMIM:PS268000
J:189268


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
04/23/2024
MGI 6.23
The Jackson Laboratory