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Phenotypes Associated with This Genotype
Cell Lines HEPD0074_4_C07
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ube3btm1a(EUCOMM)Hmgu mutation (0 available); any Ube3b mutation (44 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Growth retardation in Ube3btm1a(EUCOMM)Hmgu/Ube3btm1a(EUCOMM)Hmgu mice

• about 30% reduction in body weight
• about 10% reduction in body length

• mice do not bury as many marbles as controls
• mice show worse self-grooming behavior than controls
• mice exhibit reduced grip strength in both forelimbs and hindlimbs
• mice perform poorly on a nest building test
• almost all mice show complete loss of ultrasonic vocalizations (USVs) and those few mice that do vocalize have fewer USVs and USV quality is altered

• mitochondria-enriched fractions from skeletal muscle, but not from liver, have a 2.55-fold reduction in the branched-chain alpha-ketoacid dehydrogenase kinase (BCKDC) substrate alpha-ketoisovaleric acid-induced respiration
• however, mitochondrial morphology in neural stem cells is normal

nervous system
• ventricles in the brain are enlarged
• hypoplastic corpus callosum
• thickness of the primary somatosensory cortex is decreased
• reduction in dendritic complexity in cortical neurons which is more pronounced in the caudal cortex
• cortical neurons show a 34-42% decrease in dendritic length
• cortical neurons show a 28-31% decrease in dendritic spine density
• cortical neurons show an approximate 24% decrease in presynaptic puncta, 33% increase in postsynaptic puncta, and a 50% increase in VGAT puncta indicating synaptic abnormalities

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
Kaufman oculocerebrofacial syndrome DOID:0111456 OMIM:244450

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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last database update
MGI 6.22
The Jackson Laboratory