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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Cacna2d2du
ducky
MGI:1856022
Summary 4 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Cacna2d2du/Cacna2d2du involves: C3H * DBA/2J MGI:3710678
hm2
Cacna2d2du/Cacna2d2du involves: DBA/2J MGI:4358494
hm3
Cacna2d2du/Cacna2d2du TKDU MGI:4358556
hm4
Cacna2d2du/Cacna2d2du TKDU/DnJ MGI:4358337


Genotype
MGI:3710678
hm1
Allelic
Composition
Cacna2d2du/Cacna2d2du
Genetic
Background
involves: C3H * DBA/2J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cacna2d2du mutation (1 available); any Cacna2d2 mutation (9 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
growth/size/body
• body weight is severely reduced (19.1 grams) compared to wild-type (9.4 grams) (J:121463)
• body weight is severely reduced (19.1 grams) compared to wild-type (9.4 grams) (J:121463)

nervous system
• fiber diameter at diaphragm NMJs is reduced by ~45% compared with wild-type (J:121463)
• fiber diameter at diaphragm NMJs is reduced by ~45% compared with wild-type (J:121463)
• neuromuscular junction area (area staining for acetylcholine receptors) in ~40% smaller relative to wild-type mice (227 um2 vs 374 um2) (J:121463)
• neuromuscular junction area (area staining for acetylcholine receptors) in ~40% smaller relative to wild-type mice (227 um2 vs 374 um2) (J:121463)
• MEPP amplitude in increased by ~40% at neuromuscular junctions (NMJs) compared to wild-type (J:121463)
• MEPP amplitude in increased by ~40% at neuromuscular junctions (NMJs) compared to wild-type (J:121463)
• number of quanta released per supramaximal stimulus is reduced by ~25% compared to wild-type muscles (J:121463)
• number of quanta released per supramaximal stimulus is reduced by ~25% compared to wild-type muscles (J:121463)




Genotype
MGI:4358494
hm2
Allelic
Composition
Cacna2d2du/Cacna2d2du
Genetic
Background
involves: DBA/2J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cacna2d2du mutation (1 available); any Cacna2d2 mutation (9 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• viability is reduced compared with normal littermates (J:116)
• viability is reduced compared with normal littermates (J:116)

behavior/neurological
• waddling gait appears after 14 days of age, is seldom apparent before 19 days of age, involves a hunched appearance and a toeing out of the hind feet, and as they age they develop a reeling gait with a tendency to fall to one side (J:116)
• waddling gait appears after 14 days of age, is seldom apparent before 19 days of age, involves a hunched appearance and a toeing out of the hind feet, and as they age they develop a reeling gait with a tendency to fall to one side (J:116)

reproductive system
• females rarely breed (J:116)
• females rarely breed (J:116)
• majority of homozygous males are poor breeders (J:116)
• majority of homozygous males are poor breeders (J:116)

growth/size/body
• slightly smaller than normal littermates (J:116)
• slightly smaller than normal littermates (J:116)




Genotype
MGI:4358556
hm3
Allelic
Composition
Cacna2d2du/Cacna2d2du
Genetic
Background
TKDU
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cacna2d2du mutation (1 available); any Cacna2d2 mutation (9 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• homozyogtes usually die between 35 and 40 days of age but a few survive for several months (J:152373)
• homozyogtes usually die between 35 and 40 days of age but a few survive for several months (J:152373)

behavior/neurological
• the waddling and reeling gait lacks coordination (J:152373)
• the waddling and reeling gait lacks coordination (J:152373)
• extremely excitable (J:152373)
• extremely excitable (J:152373)
• waddling gait with the toes of the hind feet turned out, and unable to run normally but instead hop with inwardly rotated ankles or hocks, and with age the gait deteriorates so that they reel with the hind limbs and tail extended and frequently fall on their sides and exhibit periodic paraplegia (J:152373)
• waddling gait with the toes of the hind feet turned out, and unable to run normally but instead hop with inwardly rotated ankles or hocks, and with age the gait deteriorates so that they reel with the hind limbs and tail extended and frequently fall on their sides and exhibit periodic paraplegia (J:152373)
• homozygotes assume a frog-like position with the hind legs abducted at the hips, flexed at the knees, and the metatarsus kept flat on the surface (J:152373)
• homozygotes assume a frog-like position with the hind legs abducted at the hips, flexed at the knees, and the metatarsus kept flat on the surface (J:152373)
• periodic paraplegia with age (J:152373)
• periodic paraplegia with age (J:152373)

nervous system
• all hindbrain structures are smaller than normal, with the cerebellum most severely affected, and both the white and grey matter of the medulla and cerebellum is reduced and the fiber tracts shortened (J:152373)
• the pontine neurons are smaller and less numerous than normal, the crossing fibers and nucleus of the trapezoid body are significantly reduced in size, the corticospinal tract and medial lemniscus are reduced in a sagittal plane (J:152373)
• all hindbrain structures are smaller than normal, with the cerebellum most severely affected, and both the white and grey matter of the medulla and cerebellum is reduced and the fiber tracts shortened (J:152373)
• the pontine neurons are smaller and less numerous than normal, the crossing fibers and nucleus of the trapezoid body are significantly reduced in size, the corticospinal tract and medial lemniscus are reduced in a sagittal plane (J:152373)
• the medulla oblongata is shorter than normal (J:152373)
• the medulla oblongata is shorter than normal (J:152373)
• the pons is shorter than normal and has less grey and ventral white matter (J:152373)
• the pons is shorter than normal and has less grey and ventral white matter (J:152373)
• the cerebellum is smaller than normal although the forebrain is of normal size (J:152373)
• the cerebellum is smaller than normal although the forebrain is of normal size (J:152373)
• although neuroglia appear morphologically normal, they are smaller than normal and there are fewer of them (J:152373)
• although neuroglia appear morphologically normal, they are smaller than normal and there are fewer of them (J:152373)
• although normal in forebrain and midbrain, the neurons in the hindbrain and spinal cord are less numerous and smaller than normal, particularly in the trapezoid body, the pontine, olivary, and fastigial nuclei, and the spinal ganglia (J:152373)
• although normal in forebrain and midbrain, the neurons in the hindbrain and spinal cord are less numerous and smaller than normal, particularly in the trapezoid body, the pontine, olivary, and fastigial nuclei, and the spinal ganglia (J:152373)
• loss of Purkinje cells occurs (J:152373)
• loss of Purkinje cells occurs (J:152373)
• the dorsal and ventral roots, spinal ganglia and nerves are severely reduced and smaller than normal (J:152373)
• the dorsal and ventral roots, spinal ganglia and nerves are severely reduced and smaller than normal (J:152373)
• the spinal cord is thinner and shorter than normal, deficient in white and grey matter, with the funicular and short fiber tracts of the white matter smaller than normal and neurons, glia, glial fibers, and spinal ganglia in the grey matter smaller than normal (J:152373)
• the spinal cord is thinner and shorter than normal, deficient in white and grey matter, with the funicular and short fiber tracts of the white matter smaller than normal and neurons, glia, glial fibers, and spinal ganglia in the grey matter smaller than normal (J:152373)
• axonal dystrophy is consistently found in the spinocerebellar tract, lateral lemniscus, vestibulospinal and cerebellospinal tracts, in the medulla, in Purkinje cell axons as they traverse the granule cell layer, and in other fibers coursing adjacent to and between the neurons of the intracerebellar nuclei, with greatest severity in and around the fastigial nuclei (J:152373)
• axonal dystrophy is often severe in the dorsal and ventral root, cauda equina, and fibers of peripheral nerves (J:152373)
• characterized by coarse or bulbous bead-like thickenings and first detected at 16 days of age (J:152373)
• axonal dystrophy is consistently found in the spinocerebellar tract, lateral lemniscus, vestibulospinal and cerebellospinal tracts, in the medulla, in Purkinje cell axons as they traverse the granule cell layer, and in other fibers coursing adjacent to and between the neurons of the intracerebellar nuclei, with greatest severity in and around the fastigial nuclei (J:152373)
• axonal dystrophy is often severe in the dorsal and ventral root, cauda equina, and fibers of peripheral nerves (J:152373)
• characterized by coarse or bulbous bead-like thickenings and first detected at 16 days of age (J:152373)
• glial cell proliferation is found (J:152373)
• glial cell proliferation is found (J:152373)
• myelin deficiency is severe in the lateral lemniscus and ventral spinocerebellar tract and is detected at 16 days of age (J:152373)
• myelin deficiency is severe in the lateral lemniscus and ventral spinocerebellar tract and is detected at 16 days of age (J:152373)

growth/size/body
• homozygotes are only half to three quarters of the size of normal controls (J:152373)
• homozygotes are only half to three quarters of the size of normal controls (J:152373)

muscle
• the skeletal musculature is much reduced compared with controls (J:152373)
• the skeletal musculature is much reduced compared with controls (J:152373)

skeleton
• the vertebral column and spinal cord are undersized and thin, and the smaller size and underdevelopment of the vertebral column progresses caudad (J:152373)
• the vertebral bodies and spinous processs are shorter than normal, and the bony spicules and trabeculae are thinner and more delicate (J:152373)
• the vertebral column and spinal cord are undersized and thin, and the smaller size and underdevelopment of the vertebral column progresses caudad (J:152373)
• the vertebral bodies and spinous processs are shorter than normal, and the bony spicules and trabeculae are thinner and more delicate (J:152373)




Genotype
MGI:4358337
hm4
Allelic
Composition
Cacna2d2du/Cacna2d2du
Genetic
Background
TKDU/DnJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cacna2d2du mutation (1 available); any Cacna2d2 mutation (9 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
• homozygotes are hyperexcitable by 10 days of age (J:5263)
• homozygotes are hyperexcitable by 10 days of age (J:5263)
• appear at approximately 10 days of age (J:5263)
• appear at approximately 10 days of age (J:5263)

growth/size/body
• evident by 10 days of age (J:5263)
• evident by 10 days of age (J:5263)

nervous system
N
• myelin formation, as assessed by semithin sections and electron microscopy, is normal in the optic nerve, corpus callosum, and spinal cord (J:43719)
• myelin formation, as assessed by semithin sections and electron microscopy, is normal in the optic nerve, corpus callosum, and spinal cord (J:43719)
• at 21 days of age there is no loss of cell bodies in the Purkinje cell layer or granule layer (J:70845)
• at 21 days of age there is no loss of cell bodies in the Purkinje cell layer or granule layer (J:70845)
• appear at approximately 10 days of age (J:5263)
• appear at approximately 10 days of age (J:5263)
• the brain down through the foramen magnum weighs less than normal, primarily because of the lower weight of the hindbrain and spinal cord portion (J:5263)
• the brain down through the foramen magnum weighs less than normal, primarily because of the lower weight of the hindbrain and spinal cord portion (J:5263)
• spinal cord white matter has fewer small diameter axons (J:43719)
• spinal cord white matter has fewer small diameter axons (J:43719)
• there is a cerebroside deficiency in the central nervous system at 15 days of age and it is more pronounced in the hindbrain and spinal cord segment at all timepoints assessed from 18 to 57 days of age (J:5263)
• cerebroside synthesis is delayed in the hindbraind and spinal cord segment by at least 1 week to 10 days (J:5263)
• there is a cerebroside deficiency in the central nervous system at 15 days of age and it is more pronounced in the hindbrain and spinal cord segment at all timepoints assessed from 18 to 57 days of age (J:5263)
• cerebroside synthesis is delayed in the hindbraind and spinal cord segment by at least 1 week to 10 days (J:5263)

endocrine/exocrine glands
N
• protein bound iodine levels in serum are normal indicating normal thyroid function (J:5263)
• protein bound iodine levels in serum are normal indicating normal thyroid function (J:5263)

homeostasis/metabolism
• non-specific esterases of liver and kidney show developmental changes that differ from normal (J:5175)
• non-specific esterases of liver and kidney show developmental changes that differ from normal (J:5175)





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last database update
02/02/2016
MGI 6.02
The Jackson Laboratory