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| Nomenclature |
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Symbol:
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Cacna2d2du
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Name:
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calcium channel, voltage-dependent, alpha 2/delta subunit 2;
ducky
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MGI ID: |
MGI:1856022 |
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Synonyms: |
du |
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Gene:
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Cacna2d2
Location:
Chr9:107399612-107529346 bp, + strand
Genetic Position: Chr9,
58.02 cM
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Mutation
origin |
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Strain of Origin:
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Non-inbred stock
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Mutation
description |
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Allele
Type: | |
Spontaneous |
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Mutations: | |
Intragenic deletion, Duplication |
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Mutation details: A genomic rearrangement in which a head to tail duplication of Cacna2d2 exons 2-39 and and additional region of unknown length is followed by a deletion of exons 4-39 of the original Cacna2d2 gene. Two mutant transcripts are produced from this locus at low levels, but neither are likely to encode functional proteins. (J:70845)
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Inheritance: | |
Recessive |
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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Notes |
Cacna2d2du, ducky, recessive. The ducky mutation arose spontaneously in a non-inbred stock. Homozygotes show a waddling or reeling gait and a tendency to fall to one side. They are slightly smaller than normal and may occasionally have seizures. Viability is somewhat less than normal. Males living to maturity may be fertile, but are poor breeders. Females rarely breed (J:116).
Histologically, homozygotes show severe dysgenesis of hindbrain and spinal cord, myelin deficiency that is more marked the more caudal the CNS region, and demyelination and axonal dystrophy in selective fiber systems including the spinocerebellar and vestibulospinal tracts.
Genbank ID for this allele: AF247140, AF247141, AF247142
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| References |
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Original: |
J:116
Snell GD,
"Ducky, a new second chromosome mutation in the mouse"
J Hered 1955;46():27-29
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All: |
11 reference(s)
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Analysis Tools
