All Phenotypes Cacna1a<Wb> MGI Mouse

Phenotypes associated with this allele

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Cacna1a^Wb/Cacna1a^Wb	either: C3.B6-Cacna1a^Wb or (involves: C3H/HeJ * C57BL/6J)	MGI:3706704
ht2	Cacna1a^Wb/Cacna1a⁺	either: C3.B6-Cacna1a^Wb or (involves: C3H/HeJ * C57BL/6J)	MGI:3706671
ht3	Cacna1a^tg-la/Cacna1a^Wb	involves: AKR/J * C3H/HeJ * C57BL/6J	MGI:3706705

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

mortality/aging

premature death ( J:119639 )

• mice homozygous for this mutation die of starvation at about postnatal day (P)28 unless special provisions are made for their access to food and water

growth/size/body

decreased body size ( J:119639 )

• by P8 homozygous mutant mice are noticeably smaller than their heterozygous or wild-type littermates

behavior/neurological

behavior/neurological phenotype ( J:119639 )

N	• neither heterozygous nor homozygous mutant mice exhibit paroxysmal dyskinesia or motor seizure as occurs in mice homozygous for some recessive mutations at this locus

impaired righting response ( J:119639 )

• by P8, homozygous mutant mice have obvious difficulty righting themselves

dystonia ( J:119639 )

• by P21, homozygous mutant mice exhibit symptoms of dystonia

ataxia ( J:119639 )

• by P21, mice homozygous for this mutation exhibit severe ataxia and often lie on their sides with their limbs extended stiffly

• the severity of motor abnormalities in these mutant mice does not progress with age

impaired coordination ( J:119639 )

• motor function testing demonstrates more severe motor function deficits in homozygous than in heterozygous mutant mice

• in the hindlimb extension reflex test, homozygous mutants exhibit spasmodic movements and flexion of the hindlimbs

• the inclined-plane performance of homozygous mutant mice is poor

• in the narrow-beam cross, homozygous mutant mice are unable to cross a narrow beam toward a platform, indicating poor fine motor control

• in the rotarod test, homozygous mutant mice cannot maintain purchase on even a stationary rod

• the severity of motor abnormalities in these mutant mice does not progress with age

decreased grip strength ( J:119639 )

• the grip strength of homozygous mutant mice is significantly weaker than that of wild-type controls

muscle

dystonia ( J:119639 )

• by P21, homozygous mutant mice exhibit symptoms of dystonia

nervous system

nervous system phenotype ( J:119639 )

N	• cerebellar sections show neither Purkinje cell loss nor a decrease in the size of the granule cell layer in heterozygous or homozygous mutant mice

thin cerebellar molecular layer ( J:119639 )

• the molecular layer of the cerebellum in sections from 8 week-old homozygous and heterozygous mutant mice is significantly reduced in thickness and total area relative to that of wild-type control mice

cerebellum atrophy ( J:119639 )

• brain MRI of 8-week-old mutant mice reveals significant cerebellar atrophy, primarily in the superior and medial regions, including lobes III and V; the cerebellum-to-brain volume ratio of homozygous mutants is 17% lower than that of wild-type controls (P<0.01)

Allelic Composition	Cacna1a^Wb/Cacna1a⁺
Genetic Background	either: C3.B6-Cacna1a^Wb or (involves: C3H/HeJ * C57BL/6J)

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cacna1a^Wb mutation (0 available); any Cacna1a mutation (118 available)

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

mortality/aging

mortality/aging ( J:119639 )

N	• the lifespan of mice heterozygous for this mutation is similar to that of wild-type mice

growth/size/body

growth/size/body region phenotype ( J:119639 )

N	• the body size of heterozygous mutant mice is normal

behavior/neurological

behavior/neurological phenotype ( J:119639 )

N	• neither heterozygous nor homozygous mutant mice exhibit paroxysmal dyskinesia or motor seizure as occurs in mice homozygous for some recessive mutations at this locus • the grip strength of heterozygous mutants is similar to that of wild-type mice

ataxia ( J:119639 )

• by postnatal days (P)21-28, mice heterozygous for this mutation can be recognized by their unsteady gait

• by P21-28, heterozygous mutant mice can be identified by their wide stance, with their hind legs splayed and their bodies carried low

• the motor abnormalities of mice heterozygous for this mutation mice do not progress with age

impaired coordination ( J:119639 )

• motor function testing demonstrates significant motor function deficits in heterozygous mutant mice, though less severe than in homozygous mutants

• the hindlimb extension reflex of heterozygous mice is abnormal

• in the inclined-plane test, heterozygous mutant mice take significantly longer than wild-type mice to cross the inclined platform

• in the narrow-beam cross, heterozygous mutants exhibit more difficulty maneuvering than do wild-type mice, indicating deficient fine motor control

• in the rotarod test, heterozygous mutants have significantly greater difficulty remaining on the rod than do wild-type mice, even at low speeds

• the motor abnormalities of heterozygous mutant mice do not progress with age

decreased locomotor activity ( J:119639 )

• by P21-28, mice heterozygous for this mutation can be seen to exhibit reduced locomotor activity

nervous system

nervous system phenotype ( J:119639 )

N	• cerebellar sections show neither Purkinje cell loss nor a decrease in the size of the granule cell layer in heterozygous or homozygous mutant mice

thin cerebellar molecular layer ( J:119639 )

cerebellum atrophy ( J:119639 )

• brain MRI of 8-week-old mutant mice reveals significant cerebellar atrophy, primarily in the superior and medial regions, including lobes III and V; the cerebellum-to-brain volume ratio of heterozygous mutants is 7% lower than that of wild-type controls (P<0.01)

Allelic Composition	Cacna1a^tg-la/Cacna1a^Wb
Genetic Background	involves: AKR/J * C3H/HeJ * C57BL/6J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cacna1a^tg-la mutation (1 available); any Cacna1a mutation (118 available)
Cacna1a^Wb mutation (0 available); any Cacna1a mutation (118 available)

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

behavior/neurological

dystonia ( J:119639 )

• mice having both mutant alleles are said to exhibit a severe ataxic/dystonic phenotype similar to that of homozygous wobbly mice, in contrast with the mild ataxia of wobbly heterozygotes

ataxia ( J:119639 )

• mice having both mutant alleles are said to exhibit a severe ataxic/dystonic phenotype similar to that of homozygous wobbly mice, in contrast with the mild ataxia of wobbly heterozygotes

impaired coordination ( J:119639 )

• in the hindlimb extension reflex test, mice with both mutant alleles exhibit spasmodic movements and flexion of the hindlimbs

• these compound mutant mice perform poorly in the inclined-plane test

• in the narrow-beam cross, mice with both mutant alleles are unable to cross a narrow beam toward a platform, indicating poor fine motor control

• in the rotarod test, these compound mutant mice cannot maintain purchase on even a stationary rod

decreased grip strength ( J:119639 )

• the grip strength of mice with both mutant alleles is significantly weaker than that of wild-type controls

muscle

dystonia ( J:119639 )

• mice having both mutant alleles are said to exhibit a severe ataxic/dystonic phenotype similar to that of homozygous wobbly mice, in contrast with the mild ataxia of wobbly heterozygotes

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