Mouse Genome Informatics
hm1
    Agtpbp1pcd/Agtpbp1pcd
involves: C57BL/6J * C57BR/cdJ * DBA/2J
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
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
OMIM IDRef(s)
Retinitis Pigmentosa; RP 268000 J:189268


Mouse Genome Informatics
hm2
    Agtpbp1pcd/Agtpbp1pcd
involves: C57BR/cdJ
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
nervous system
• few cartwheel cells in the dorsal cochlear nucleus
• few Purkinje cell


Mouse Genome Informatics
hm3
    Agtpbp1pcd/Agtpbp1pcd
involves: C57BR/cdJ * CBA
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
behavior/neurological
• age of onset, 3 - 4 weeks

nervous system
• thalamic neuronal degeneration, age of onset 50 - 60 days
• olfactory mitral cell degeneration, slow and progressive
• climbing fibers never contact Purkinje cells (J:23733)
• symmetrical regions of more resistant cells but most disappear eventually (J:106414)
• age of onset, 15 - 18 days
• atrophic dendritic trees
• cell loss begins at 3 weeks of age and progresses rapidly
• about 1% of initial population remains at 2 months of age
• granule cell degeneration, partial loss following Purkinje cell degeneration
• photoreceptor cell degeneration, age of onset, 18 - 25 days
• complete over the course of 1 year

vision/eye
• photoreceptor cell degeneration, age of onset, 18 - 25 days
• complete over the course of 1 year

reproductive system
• of the few sperm found, these were degenerated (J:5613)
(J:5613)
• females were poor breeders (J:5613)