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Spontaneous Allele Detail
Symbol: Cacna2d2du
Name: calcium channel, voltage-dependent, alpha 2/delta subunit 2; ducky
MGI ID: MGI:1856022
Synonyms: du
Gene: Cacna2d2  Location: Chr9:107399612-107529343 bp, + strand  Genetic Position: Chr9, 58.02 cM
Strain of Origin:  Non-inbred stock
Allele Type:    Spontaneous
Mutations:    Duplication, Intragenic deletion
Mutation detailsA 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)
Inheritance:    Recessive
View phenotypes for all genotypes (concatenated display).
Disease models
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Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any Cacna2d2 Mutation:  8 strains or lines available
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

Original:  J:116 Snell GD, Ducky, a new second chromosome mutation in the mouse. J Hered. 1955;46:27-29
All:  11 reference(s)

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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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MGI 5.21
The Jackson Laboratory