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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Cacna1atm1Hssh
targeted mutation 1, Hee-Sup Shin
MGI:2181384
Summary 3 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Cacna1atm1Hssh/Cacna1atm1Hssh involves: 129 * C57BL/6J MGI:3810420
hm2
Cacna1atm1Hssh/Cacna1atm1Hssh involves: C57BL/6J MGI:3810442
hm3
Cacna1atm1Hssh/Cacna1atm1Hssh Not Specified MGI:5140543


Genotype
MGI:3810420
hm1
Allelic
Composition
Cacna1atm1Hssh/Cacna1atm1Hssh
Genetic
Background
involves: 129 * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cacna1atm1Hssh mutation (0 available); any Cacna1a mutation (115 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• at 4 weeks

nervous system
• the external granule cell layer persists longer than in wild-type mice
• mice exhibit an increased in TH-immunoreactive neurons in the deep cortical layers compared to in wild-type mice indicative of a delay in development
• mice exhibit abundant focal axonal swelling unlike in wild-type mice
• mice exhibit sensitivity of excitatory postsynaptic potential to omega-CTx-GVIA blockage and 4-APP stimulation compared to in similarly treated wild-type mice
• total current density of calcium ion channels is reduced compared to in wild-type mice
• omega-CTx-MVIIC-sensitive and P/Q currents of calcium ion channels are decreased compared to in wild-type mice
• calcium ion channel current density in Purkinje cells is decrease compared to in wild-type mice
• while P-type channel activity is eliminated, L-type and N-type calcium ion channel activity are increased compared to in wild-type mice

behavior/neurological
• older mice exhibit prolonged and less successful attempts at righting compared to in wild-type mice
• after 10 days, mice exhibit lose of balance when walking and roll onto their backs unlike wild-type mice
• falling while walking worsens with age and by P20 mice cannot walk
• after 10 days, mice exhibit lose of balance when walking that worsens with again and roll onto their backs unlike wild-type mice

muscle
• older mice exhibit extensor spasms of the hindlimbs during righting effort unlike in wild-type mice

growth/size/body
• at 4 weeks




Genotype
MGI:3810442
hm2
Allelic
Composition
Cacna1atm1Hssh/Cacna1atm1Hssh
Genetic
Background
involves: C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cacna1atm1Hssh mutation (0 available); any Cacna1a mutation (115 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• mice exhibit spike-wave-discharges unlike in wild-type mice
• treatment of mice with 1-Octanol induces a comma-like state and abolished spike-wave-discharges
• subthreshold and voltage sensitive gamma-band oscillation are absent
• unlike in wild-type mice, thalamocortical activation is insensitive to Aga-TK and SNX-482 but is hypersensitive to Cono-GVIA
• low-threshold rebound calcium spikes after hyperpolarization are more robust than in wild-type mice
• high threshold calcium current amplitudes are smaller than in wild-type mice
• the density of T-type low-voltage activated channels in ventral-basal neurons is increased compared to in wild-type mice

behavior/neurological
• mice exhibit spike-wave-discharges unlike in wild-type mice
• treatment of mice with 1-Octanol induces a comma-like state and abolished spike-wave-discharges




Genotype
MGI:5140543
hm3
Allelic
Composition
Cacna1atm1Hssh/Cacna1atm1Hssh
Genetic
Background
Not Specified
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cacna1atm1Hssh mutation (0 available); any Cacna1a mutation (115 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• mice exhibit impaired postnatal climbing fiber (CF) synapse development due to impaired CF synapse elimination compared with wild-type mice
• the fraction of largest climbing fiber excitatory postsynaptic current (CF-EPSC) is larger than in wild-type mice





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last database update
05/07/2024
MGI 6.23
The Jackson Laboratory