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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Agtpbp1pcd
Purkinje cell degeneration
MGI:1856535
Summary 3 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Agtpbp1pcd/Agtpbp1pcd involves: C57BL/6J * C57BR/cdJ * DBA/2J MGI:5446655
hm2
Agtpbp1pcd/Agtpbp1pcd involves: C57BR/cdJ MGI:4835174
hm3
Agtpbp1pcd/Agtpbp1pcd involves: C57BR/cdJ * CBA MGI:2175210


Genotype
MGI:5446655
hm1
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 (12 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 (J:189268)
• reduction in the number of calbindin+ amacrine cells at P270, but not earlier time points (J:189268)
• rod bipolar cells show a progressive loss of dendrites that is first observed at P90 and is complete by P270 (J:189268)
• rod bipolar cells show a progressive loss of dendrites that is first observed at P90 and is complete by P270 (J:189268)
• 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 (J:189268)
• 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 (J:189268)
• smaller terminal end-bulbs and varicosities in the sublamine 5 of the inner plexiform layer are seen from P90 (J:189268)
• end-bulbs of axonal terminals are disorganized and smaller (J:189268)
• smaller terminal end-bulbs and varicosities in the sublamine 5 of the inner plexiform layer are seen from P90 (J:189268)
• end-bulbs of axonal terminals are disorganized and smaller (J:189268)
• in the oldest mutants (P180 and P270) some horizontal cell somas are abnormally located in the outer nuclear layer (J:189268)
• in the oldest mutants (P180 and P270) some horizontal cell somas are abnormally located in the outer nuclear layer (J:189268)
• progressive reduction in thickness due to photoreceptor death (J:189268)
• progressive reduction in thickness due to photoreceptor death (J:189268)
• magnitude of age-related ERG amplitude reduction is more pronounced in mutants than in wild-type mice, especially at later ages (J:189268)
• 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 (J:189268)
• oscillatory potential amplitudes in response to a light flash are different from wild-type (J:189268)
• magnitude of age-related ERG amplitude reduction is more pronounced in mutants than in wild-type mice, especially at later ages (J:189268)
• 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 (J:189268)
• oscillatory potential amplitudes in response to a light flash are different from wild-type (J:189268)
• amplitudes of the cone ERG b-wave is decreased in mutants at P90 and older (J:189268)
• however, no differences from wild-type in cone flicker ERGs are seen (J:189268)
• amplitudes of the cone ERG b-wave is decreased in mutants at P90 and older (J:189268)
• however, no differences from wild-type in cone flicker ERGs are seen (J:189268)
• amplitude of the rod b-wave is reduced in mutants for all postnatal days measured after P90 (J:189268)
• amplitude of the rod b-wave is reduced in mutants for all postnatal days measured after P90 (J:189268)

nervous system
• reduction in the number of calbindin+ amacrine cells at P270, but not earlier time points (J:189268)
• reduction in the number of calbindin+ amacrine cells at P270, but not earlier time points (J:189268)
• rod bipolar cells show a progressive loss of dendrites that is first observed at P90 and is complete by P270 (J:189268)
• rod bipolar cells show a progressive loss of dendrites that is first observed at P90 and is complete by P270 (J:189268)
• 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 (J:189268)
• 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 (J:189268)

Mouse Models of Human Disease
OMIM ID Ref(s)
Retinitis Pigmentosa; RP 268000 J:189268




Genotype
MGI:4835174
hm2
Allelic
Composition
Agtpbp1pcd/Agtpbp1pcd
Genetic
Background
involves: C57BR/cdJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Agtpbp1pcd mutation (2 available); any Agtpbp1 mutation (12 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• few cartwheel cells in the dorsal cochlear nucleus (J:121314)
• few cartwheel cells in the dorsal cochlear nucleus (J:121314)
• few Purkinje cell (J:121314)
• few Purkinje cell (J:121314)




Genotype
MGI:2175210
hm3
Allelic
Composition
Agtpbp1pcd/Agtpbp1pcd
Genetic
Background
involves: C57BR/cdJ * CBA
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Agtpbp1pcd mutation (2 available); any Agtpbp1 mutation (12 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
• age of onset, 3 - 4 weeks (J:5613)
• age of onset, 3 - 4 weeks (J:5613)

nervous system
• thalamic neuronal degeneration, age of onset 50 - 60 days (J:5613)
• thalamic neuronal degeneration, age of onset 50 - 60 days (J:5613)
• olfactory mitral cell degeneration, slow and progressive (J:5613)
• olfactory mitral cell degeneration, slow and progressive (J:5613)
• climbing fibers never contact Purkinje cells (J:23733)
• climbing fibers never contact Purkinje cells (J:23733)
• symmetrical regions of more resistant cells but most disappear eventually (J:106414)
• symmetrical regions of more resistant cells but most disappear eventually (J:106414)
• age of onset, 15 - 18 days (J:5613)
• age of onset, 15 - 18 days (J:5613)
• atrophic dendritic trees (J:23733)
• atrophic dendritic trees (J:23733)
• cell loss begins at 3 weeks of age and progresses rapidly (J:106414)
• about 1% of initial population remains at 2 months of age (J:106414)
• cell loss begins at 3 weeks of age and progresses rapidly (J:106414)
• about 1% of initial population remains at 2 months of age (J:106414)
• granule cell degeneration, partial loss following Purkinje cell degeneration (J:5613)
• granule cell degeneration, partial loss following Purkinje cell degeneration (J:5613)
• photoreceptor cell degeneration, age of onset, 18 - 25 days (J:5613)
• complete over the course of 1 year (J:5613)
• photoreceptor cell degeneration, age of onset, 18 - 25 days (J:5613)
• complete over the course of 1 year (J:5613)

vision/eye
• photoreceptor cell degeneration, age of onset, 18 - 25 days (J:5613)
• complete over the course of 1 year (J:5613)
• photoreceptor cell degeneration, age of onset, 18 - 25 days (J:5613)
• complete over the course of 1 year (J:5613)

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





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last database update
01/26/2016
MGI 6.02
The Jackson Laboratory