Mbnl1 Phenotype Annotations - Multigenic Genotypes

Mammalian Phenotype Ontology Annotations
Query Results - Summary

Symbol
Name
ID

Mbnl1
muscleblind like splicing regulator 1
MGI:1928482

27 phenotypes from multigenic genotypes

Allelic Composition Genetic Background	Annotated Term	Reference
Mbnl1^tm1Sws/Mbnl1⁺ Mbnl2^tm1.1Sws/Mbnl2^tm1.1Sws involves: 129S1/Sv * 129S1/SvImJ * C57BL	prenatal lethality, incomplete penetrance	J:218011
Mbnl1^tm1Sws/Mbnl1^tm1Sws Mbnl2^tm1.1Sws/Mbnl2⁺ involves: 129S1/Sv * 129S1/SvImJ * C57BL	abnormal motor coordination/balance	J:218011
	abnormal neuromuscular synapse morphology	J:218011
	atrioventricular block	J:218011
	cardiac fibrosis	J:218011
	cardiac interstitial fibrosis	J:218011
	decreased body weight	J:218011
	decreased grip strength	J:218011
	dilated heart atrium	J:218011
	enlarged heart	J:218011
	heart left ventricle hypertrophy	J:218011
	impaired coordination	J:218011
	impaired muscle relaxation	J:218011
	muscle degeneration	J:218011
	premature death	J:218011
	progressive muscle weakness	J:218011
	prolonged PR interval	J:218011
	prolonged QRS complex duration	J:218011
	prolonged QT interval	J:218011
Mbnl1^tm1Sws/Mbnl1^tm1Sws Mbnl2^tm1.1Sws/Mbnl2^tm1.1Sws involves: 129S1/Sv * 129S1/SvImJ * C57BL	prenatal lethality, complete penetrance	J:218011
Mbnl1^tm1Sws/Mbnl1^tm1Sws Mbnl2^tm1Sws/Mbnl2^tm1Sws Tg(Myog-cre)1Eno/0 involves: 129S1/Sv * 129S1/SvImJ * C57BL	abnormal motor capabilities/coordination/movement	J:218011
	centrally nucleated skeletal muscle fibers	J:218011
	decreased birth body size	J:218011
	decreased grip strength	J:218011
	decreased skeletal muscle fiber size	J:218011
	increased variability of skeletal muscle fiber size	J:218011
	kyphosis	J:218011
	skeletal muscle degeneration	J:218011

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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