All Phenotypes Sacs<tm1(NCOM)Mfgc> MGI Mouse

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Phenotypes associated with this allele

Allele Symbol
Allele Name
Allele ID

Sacs^{tm1(NCOM)Mfgc}
targeted mutation 1, Mammalian Functional Genomics Centre
MGI:5702397

Summary

1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Sacs^{tm1(NCOM)Mfgc}/Sacs^{tm1(NCOM)Mfgc}	Not Specified	MGI:6316985

Allelic Composition	Sacs^{tm1(NCOM)Mfgc}/Sacs^{tm1(NCOM)Mfgc}
Genetic Background	Not Specified

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Sacs^{tm1(NCOM)Mfgc} mutation (0 available); any Sacs mutation (156 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

cellular

abnormal mitochondrial physiology ( J:182034 )

• mitochondrial dysfunction in Purkinje cells

nervous system

Purkinje cell degeneration ( J:182034 )

• in the cerebellum at 200 days

abnormal Purkinje cell dendrite morphology ( J:182034 )

• thicker dendrites and tortuous dendritic fields at 120 days

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Charlevoix-Saguenay spastic ataxia		DOID:0050946	OMIM:270550	J:182034

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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