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Mammalian Phenotype Ontology Annotations
Query Results - Summary
Symbol
Name
ID 		Mbnl1
muscleblind like splicing regulator 1
MGI:1928482
27 phenotypes from multigenic genotypes
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Allelic Composition
Genetic Background		 Annotated Term Reference
Mbnl1tm1Sws/Mbnl1+
Mbnl2tm1.1Sws/Mbnl2tm1.1Sws
involves: 129S1/Sv * 129S1/SvImJ * C57BL 		prenatal lethality, incomplete penetrance J:218011
Mbnl1tm1Sws/Mbnl1tm1Sws
Mbnl2tm1.1Sws/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
Mbnl1tm1Sws/Mbnl1tm1Sws
Mbnl2tm1.1Sws/Mbnl2tm1.1Sws
involves: 129S1/Sv * 129S1/SvImJ * C57BL 		prenatal lethality, complete penetrance J:218011
Mbnl1tm1Sws/Mbnl1tm1Sws
Mbnl2tm1Sws/Mbnl2tm1Sws
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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Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory