Sacs Phenotype Annotations

Mammalian Phenotype Ontology Annotations
Query Results - Summary

Symbol
Name
ID

Sacs
sacsin
MGI:1354724

26 phenotypes from 3 alleles in 3 genetic backgrounds

Allelic Composition Genetic Background	Annotated Term	Reference
Sacs^em1(IMPC)Tcp/Sacs⁺ C57BL/6NCrl-Sacs^em1(IMPC)Tcp/Tcp	abnormal kidney morphology	J:211773
	abnormal skin morphology	J:211773
	increased mean corpuscular volume	J:211773
Sacs^em1(IMPC)Tcp/Sacs^em1(IMPC)Tcp C57BL/6NCrl-Sacs^em1(IMPC)Tcp/Tcp	abnormal spleen morphology	J:211773
	abnormal sternum morphology	J:211773
	increased mean corpuscular volume	J:211773
	preweaning lethality, complete penetrance	J:211773
	small uterus	J:211773
Sacs^{tm1(NCOM)Mfgc}/Sacs^{tm1(NCOM)Mfgc} Not Specified	abnormal mitochondrial physiology	J:182034
	abnormal Purkinje cell dendrite morphology	J:182034
	Purkinje cell degeneration	J:182034
Sacs^tm2Bebr/Sacs⁺ involves: C57BL/6	impaired balance	J:217753
Sacs^tm2Bebr/Sacs⁺ involves: C57BL/6	impaired coordination	J:217753
Sacs^tm2Bebr/Sacs^tm2Bebr involves: C57BL/6	abnormal dendrite morphology	J:217753
	abnormal gait	J:217753
	abnormal gastrocnemius morphology	J:217753
	abnormal motor neuron morphology	J:217753
	abnormal Purkinje cell axon morphology	J:217753
	abnormal skeletal muscle fiber morphology	J:217753
	axon degeneration	J:217753
	decreased gastrocnemius weight	J:217753
	decreased grip strength	J:217753
	decreased soleus weight	J:217753
	impaired balance	J:217753
	impaired coordination	J:217753
	limb grasping	J:217753
	motor neuron degeneration	J:217753
	muscle weakness	J:217753
	Purkinje cell degeneration	J:217753
	tremors	J:217753

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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