Col6a3 Phenotype Annotations

Mammalian Phenotype Ontology Annotations
Query Results - Summary

Symbol
Name
ID

Col6a3
collagen, type VI, alpha 3
MGI:88461

25 phenotypes from 4 alleles in 4 genetic backgrounds

Allelic Composition Genetic Background	Annotated Term	Reference
Col6a3^{em1(IMPC)Kmpc}/Col6a3^{em1(IMPC)Kmpc} C57BL/6NTac-Col6a3^{em1(IMPC)Kmpc}/Kmpc	decreased grip strength	J:211773
	decreased lean body mass	J:211773
	increased circulating LDL cholesterol level	J:211773
Col6a3^em1(IMPC)Tcp/Col6a3^em1(IMPC)Tcp C57BL/6N-Col6a3^em1(IMPC)Tcp/Tcp	decreased body length	J:211773
	decreased grip strength	J:211773
	enlarged kidney	J:211773
	enlarged lymph nodes	J:211773
	enlarged urinary bladder	J:211773
	prolonged QT interval	J:211773
Col6a3^tm1Chu/Col6a3^tm1Chu B6.129-Col6a3^tm1Chu	abnormal muscle physiology	J:198581
	abnormal skeletal muscle regeneration	J:198581
	abnormal tendon collagen fibril morphology	J:198581
	centrally nucleated skeletal muscle fibers	J:198581
	decreased body weight	J:198581
	decreased skeletal muscle weight	J:198581
	increased collagen deposition in the muscles	J:198581
	increased variability of skeletal muscle fiber size	J:198581
	myopathy	J:198581
	skeletal muscle interstitial fibrosis	J:198581
	normal vision/eye phenotype	J:198581
Col6a3^tm2.1Chu/Col6a3⁺ B6.129(Cg)-Col6a3^tm2.1Chu	abnormal mitochondrial shape	J:208903
	abnormal muscle fiber morphology	J:208903
	abnormal tendon cell morphology	J:208903
	abnormal tendon collagen fibril morphology	J:208903
	abnormal tendon morphology	J:208903
	centrally nucleated skeletal muscle fibers	J:208903
	dilated sarcoplasmic reticulum	J:208903
	impaired skeletal muscle contractility	J:208903
	increased variability of skeletal muscle fiber size	J:208903
	myopathy	J:208903
Col6a3^tm2.1Chu/Col6a3^tm2.1Chu B6.129(Cg)-Col6a3^tm2.1Chu	abnormal mitochondrial shape	J:208903
	abnormal muscle fiber morphology	J:208903
	abnormal tendon cell morphology	J:208903
	abnormal tendon collagen fibril morphology	J:208903
	abnormal tendon morphology	J:208903
	centrally nucleated skeletal muscle fibers	J:208903
	dilated sarcoplasmic reticulum	J:208903
	increased variability of skeletal muscle fiber size	J:208903
	myopathy	J:208903

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)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 11/12/2024 MGI 6.24