Mbnl2 Phenotype Annotations

Mammalian Phenotype Ontology Annotations
Query Results - Summary

Symbol
Name
ID

Mbnl2
muscleblind like splicing factor 2
MGI:2145597

19 phenotypes from 3 alleles in 3 genetic backgrounds

Allelic Composition Genetic Background	Annotated Term	Reference
Mbnl2^{Gt(RRK149)Byg}/Mbnl2^{Gt(RRK149)Byg} involves: 129P2/OlaHsd * C57BL/6J	abnormal skeletal muscle fiber morphology	J:130160
	centrally nucleated skeletal muscle fibers	J:130160
	decreased skeletal muscle fiber size	J:130160
	impaired muscle relaxation	J:130160
	lordosis	J:130160
	skeletal muscle interstitial fibrosis	J:130160
Mbnl2^Gt(XB595)Byg/Mbnl2^Gt(XB595)Byg involves: 129P2/OlaHsd * C57BL/6	normal muscle phenotype	J:112061
Mbnl2^tm1.1Sws/Mbnl2⁺ involves: 129S1/SvImJ * BALB/cJ * C57BL/6J	increased susceptibility to pharmacologically induced seizures	J:218010
Mbnl2^tm1.1Sws/Mbnl2^tm1.1Sws involves: 129S1/SvImJ * BALB/cJ * C57BL/6J	abnormal CNS synaptic transmission	J:218010
	abnormal excitatory postsynaptic potential	J:218010
	abnormal paradoxical sleep pattern	J:218010
	abnormal spatial reference memory	J:218010
	decreased body size	J:218010
	fragmentation of sleep/wake states	J:218010
	impaired synaptic plasticity	J:218010
	increased frequency of paradoxical sleep	J:218010
	increased susceptibility to pharmacologically induced seizures	J:218010
	normal muscle phenotype	J:218010
	postnatal lethality, incomplete penetrance	J:218010
	reduced long-term potentiation	J:218010
	tonic-clonic seizures	J:218010

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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