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Phenotypes Associated with This Genotype
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Myo5ad-n mutation (2 available); any Myo5a mutation (203 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
• mice appear gray on a nonagouti background (J:47547)

• frequency of spontaneous eyeblink and startle response to the tone conditioned stimulus are no different from wild-type mice
• young mutants (P28-P29) exhibit impaired eyeblink conditioning while adults show similar eyeblink conditioning as wild-type mice
• the majority of homozygotes of both sexes reach adulthood and are fertile
• on the rotarod test, both young and adult mutants fail to stay on the rod and performance was not improved even by training for 7 days as in wild-type mice
• on a fixed-bar test, both young and adult mutants are unable to stay on the bar at all
• adult mutants exhibit abnormal movements, such as occasionally lifting the tail and a tendency to waddle
• mutants develop gait abnormalities at P10-P11
• adult mutants exhibit abnormal gait, with a wider gait and a more irregular stride pattern than wild-type mice
• mutants exhibit clonic seizures, which are most severe at 2-4 weeks of age, however seizures cease by 1 month of age

• mice appear gray on a nonagouti background (J:47547)

• after the onset of neurological abnormalities around P10-P11, mutants show poor weight gain, even as adults

nervous system
• mutants exhibit clonic seizures, which are most severe at 2-4 weeks of age, however seizures cease by 1 month of age
• cerebellar weights are slightly lower than of wild-type, and these weights scarcely increase from 3 weeks of age to adulthood
• however, no gross alteration of cerebellar architecture is seen during postnatal development or adulthood
• although smooth endoplasmic reticulum (SER) is present in dendrites and soma of Purkinje cells, SER rarely extends into the dendritic spines of Purkinje cells in young mice
• Purkinje cell spines lack IP3 receptors in young mutants
• adults show SER and IP3 receptors in Purkinje cell spines, however, the tubular SER networks form poorly within the Purkinje cell spines and IP3 receptors are not as abundant as in wild-type mice
• long term depression (LTD) at parallel fiber-Purkinje cell synapses is abolished in young mice, however LTD is restored in adults

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
Griscelli syndrome type 1 DOID:0060832 OMIM:214450

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last database update
MGI 6.08
The Jackson Laboratory