Col13a1 Phenotype Annotations

Mammalian Phenotype Ontology Annotations
Query Results - Summary

Symbol
Name
ID

Col13a1
collagen, type XIII, alpha 1
MGI:1277201

30 phenotypes from 4 alleles in 5 genetic backgrounds

Allelic Composition Genetic Background	Annotated Term	Reference
Col13a1^tm1Pih/Col13a1^tm1Pih either: (involves: 129S1/Sv * 129X1/SvJ) or (involves: 129S1/Sv * 129X1/SvJ * C57BL/6J)	abnormal basement membrane morphology	J:71939
	abnormal cell adhesion	J:71939
	abnormal sarcolemma morphology	J:71939
	abnormal skeletal muscle fiber morphology	J:71939
	abnormal skeletal muscle morphology	J:71939
	abnormal Z line morphology	J:71939
	decreased skeletal muscle fiber diameter	J:71939
	impaired exercise endurance	J:71939
	increased susceptibility to injury	J:71939
	muscle degeneration	J:71939
	myopathy	J:71939
	myositis	J:71939
Col13a1^tm1Pih/Col13a1^tm1Pih involves: 129S1/Sv * 129X1/SvJ	abnormal endplate potential	J:164671
Col13a1^tm2Pih/Col13a1^tm2Pih involves: 129S6/SvEvTac * C57BL/6	abnormal endplate potential	J:164671
Col13a1^tm3.1Pih/Col13a1^tm3.1Pih involves: 129S1/Sv * 129X1/SvJ	abnormal diaphragm morphology	J:242846
	abnormal endocytosis	J:242846
	abnormal motor neuron morphology	J:242846
	abnormal neuromuscular synapse morphology	J:242846
	abnormal skeletal muscle fiber morphology	J:242846
	abnormal skeletal muscle fiber type ratio	J:242846
	abnormal soleus morphology	J:242846
	centrally nucleated skeletal muscle fibers	J:242846
	decreased soleus weight	J:242846
	muscle weakness	J:242846
	postnatal growth retardation	J:242846
	skeletal muscle fiber atrophy	J:242846
Col13a1^tm3.1Pih/Col13a1^tm3.1Pih involves: 129S1/Sv * 129X1/SvJ * C57BL/6	abnormal endplate potential	J:164671
	abnormal miniature endplate potential	J:164671
	abnormal neuromuscular synapse morphology	J:164671
	abnormal synaptic acetylcholine release	J:164671
	abnormal synaptic vesicle morphology	J:164671
	postnatal growth retardation	J:164671
	tremors	J:164671
Col13a1^tm4.1Pih/Col13a1^tm4.1Pih involves: C57BL/6	abnormal diaphragm morphology	J:242846
	abnormal endocytosis	J:242846
	abnormal endplate potential	J:242846
	abnormal miniature endplate potential	J:242846
	abnormal motor neuron morphology	J:242846
	abnormal neuromuscular synapse morphology	J:242846
	abnormal skeletal muscle fiber morphology	J:242846
	abnormal synaptic vesicle exocytosis	J:242846
	centrally nucleated skeletal muscle fibers	J:242846
	decreased body weight	J:242846

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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