Phenotypes associated with this allele

• Allele Symbol: Agtpbp1^pcd
• Allele Name: Purkinje cell degeneration
• Allele ID: MGI:1856535
• Summary: 4 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Agtpbp1^pcd/Agtpbp1^pcd	B6.BR-Agtpbp1^pcd/J	MGI:4360641
hm2	Agtpbp1^pcd/Agtpbp1^pcd	involves: C57BL/6J * C57BR/cdJ * DBA/2J	MGI:5446655
hm3	Agtpbp1^pcd/Agtpbp1^pcd	involves: C57BR/cdJ	MGI:4835174
hm4	Agtpbp1^pcd/Agtpbp1^pcd	involves: C57BR/cdJ * CBA	MGI:2175210

Genotype
MGI:4360641

hm1

• Allelic Composition: Agtpbp1^pcd/Agtpbp1^pcd
• Genetic Background: B6.BR-Agtpbp1^pcd/J

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

Agtpbp1^pcd/Agtpbp1^pcd mouse

vision/eye

abnormal photoreceptor connecting cilium morphology ( J:249732 )

• progressive tubulin hyperglutamylation in cilium microtubles from age P30

• cilia 36 % shorter at age P30

• normal tubulin glutamylation in cilium microtubles at age P19

• normal cilia length at age P19

retina photoreceptor degeneration ( J:249732 )

• progressive tubulin hyperglutamylation in microtubles of photoreceptor connecting cilia between inner and outer segments from age P30

• photoreceptor connecting cilia 36 % shorter at age P30

• normal tubulin glutamylation in microtubles of photoreceptor connecting cilia at age P19

• normal photoreceptor connecting cilia length at age P19

nervous system

abnormal photoreceptor connecting cilium morphology ( J:249732 )

• progressive tubulin hyperglutamylation in cilium microtubles from age P30

• cilia 36 % shorter at age P30

• normal tubulin glutamylation in cilium microtubles at age P19

• normal cilia length at age P19

retina photoreceptor degeneration ( J:249732 )

• progressive tubulin hyperglutamylation in microtubles of photoreceptor connecting cilia between inner and outer segments from age P30

• photoreceptor connecting cilia 36 % shorter at age P30

• normal tubulin glutamylation in microtubles of photoreceptor connecting cilia at age P19

• normal photoreceptor connecting cilia length at age P19

cellular

abnormal photoreceptor connecting cilium morphology ( J:249732 )

• progressive tubulin hyperglutamylation in cilium microtubles from age P30

• cilia 36 % shorter at age P30

• normal tubulin glutamylation in cilium microtubles at age P19

• normal cilia length at age P19

Genotype
MGI:5446655

hm2

• Allelic Composition: Agtpbp1^pcd/Agtpbp1^pcd
• Genetic Background: involves: C57BL/6J * C57BR/cdJ * DBA/2J

vision/eye

decreased amacrine cell number ( J:189268 )

• reduction in the number of calbindin+ amacrine cells at P270, but not earlier time points

abnormal retina rod cell morphology ( J:189268 )

• rod bipolar cells show a progressive loss of dendrites that is first observed at P90 and is complete by P270

retina photoreceptor degeneration ( 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

abnormal retina inner plexiform layer morphology ( J:189268 )

• 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

abnormal retina outer nuclear layer morphology ( J:189268 )

• in the oldest mutants (P180 and P270) some horizontal cell somas are abnormally located in the outer nuclear layer

thin retina outer nuclear layer ( J:189268 )

• progressive reduction in thickness due to photoreceptor death

abnormal eye electrophysiology ( J:189268 )

• 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

abnormal cone electrophysiology ( J:189268 )

• 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

abnormal rod electrophysiology ( J:189268 )

• amplitude of the rod b-wave is reduced in mutants for all postnatal days measured after P90

nervous system

decreased amacrine cell number ( J:189268 )

• reduction in the number of calbindin+ amacrine cells at P270, but not earlier time points

abnormal retina rod cell morphology ( J:189268 )

• rod bipolar cells show a progressive loss of dendrites that is first observed at P90 and is complete by P270

retina photoreceptor degeneration ( 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

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

Genotype
MGI:4835174

hm3

• Allelic Composition: Agtpbp1^pcd/Agtpbp1^pcd
• Genetic Background: involves: C57BR/cdJ

nervous system

abnormal cochlear VIII nucleus morphology ( J:121314 )

• few cartwheel cells in the dorsal cochlear nucleus

decreased Purkinje cell number ( J:121314 )

• few Purkinje cell

Genotype
MGI:2175210

hm4

• Allelic Composition: Agtpbp1^pcd/Agtpbp1^pcd
• Genetic Background: involves: C57BR/cdJ * CBA

behavior/neurological

ataxia ( J:5613 )

• age of onset, 3 - 4 weeks

nervous system

abnormal thalamus morphology ( J:5613 )

• thalamic neuronal degeneration, age of onset 50 - 60 days

abnormal olfactory bulb morphology ( J:5613 )

• olfactory mitral cell degeneration, slow and progressive

abnormal cerebellar Purkinje cell layer ( J:23733 , J:106414 )

• climbing fibers never contact Purkinje cells (J:23733)

• symmetrical regions of more resistant cells but most disappear eventually (J:106414)

Purkinje cell degeneration ( J:5613 )

• age of onset, 15 - 18 days

abnormal Purkinje cell dendrite morphology ( J:23733 )

• atrophic dendritic trees

decreased Purkinje cell number ( J:106414 )

• cell loss begins at 3 weeks of age and progresses rapidly

• about 1% of initial population remains at 2 months of age

abnormal cerebellar granule layer morphology ( J:5613 )

• granule cell degeneration, partial loss following Purkinje cell degeneration

retina photoreceptor degeneration ( J:5613 )

• photoreceptor cell degeneration, age of onset, 18 - 25 days

• complete over the course of 1 year

vision/eye

retina photoreceptor degeneration ( J:5613 )

• photoreceptor cell degeneration, age of onset, 18 - 25 days

• complete over the course of 1 year

reproductive system

abnormal male germ cell morphology ( J:5613 )

♂ • of the few sperm found, these were degenerated

oligozoospermia ( J:5613 )

♂

asthenozoospermia ( J:5613 )

♂

reduced female fertility ( J:5613 )

♀ • females were poor breeders

male infertility ( J:5613 )

♂

cellular

abnormal male germ cell morphology ( J:5613 )

♂ • of the few sperm found, these were degenerated

oligozoospermia ( J:5613 )

♂

asthenozoospermia ( J:5613 )

♂