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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)
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last database update
12/10/2024
MGI 6.24
The Jackson Laboratory