Phenotypes Associated with This Genotype

Genotype
MGI:6295856

• Allelic Composition: Ube3b^{tm1a(EUCOMM)Hmgu}/Ube3b^{tm1a(EUCOMM)Hmgu}
• Genetic Background: C57BL/6-Ube3b^{tm1a(EUCOMM)Hmgu}
• Cell Lines: HEPD0074_4_C07

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

Growth retardation in Ube3b^{tm1a(EUCOMM)Hmgu}/Ube3b^{tm1a(EUCOMM)Hmgu} mice

growth/size/body

decreased body weight ( J:273879 )

• about 30% reduction in body weight

decreased body length ( J:273879 )

• about 10% reduction in body length

postnatal growth retardation ( J:273879 )

behavior/neurological

abnormal behavior ( J:273879 )

• mice do not bury as many marbles as controls

poor grooming ( J:273879 )

• mice show worse self-grooming behavior than controls

decreased grip strength ( J:273879 )

• mice exhibit reduced grip strength in both forelimbs and hindlimbs

abnormal nest building behavior ( J:273879 )

• mice perform poorly on a nest building test

decreased vocalization ( J:273879 )

• 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

cellular

abnormal mitochondrial physiology ( J:273879 )

• 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

enlarged brain ventricles ( J:273879 )

• ventricles in the brain are enlarged

abnormal corpus callosum morphology ( J:273879 )

• hypoplastic corpus callosum

abnormal primary somatosensory cortex morphology ( J:273879 )

• thickness of the primary somatosensory cortex is decreased

abnormal dendrite morphology ( J:273879 )

• 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

decreased dendritic spine density ( J:273879 )

• cortical neurons show a 28-31% decrease in dendritic spine density

abnormal synapse morphology ( J:273879 )

• 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	J:273879