Phenotypes Associated with This Genotype

Genotype
MGI:5314953

• Allelic Composition: Eif4h^Gt(Ex279)Byg/Eif4h^Gt(Ex279)Byg
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6

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

reproductive system

reduced female fertility ( J:181945 )

♀ • female mice produce smaller than normal litters, none of which survive

decreased litter size ( J:181945 )

• female mice mated to wild-type male mice produce smaller than normal litters, no of which survive

male infertility ( J:181945 )

♂

nervous system

decreased brain size ( J:181945 )

enlarged lateral ventricles ( J:181945 )

abnormal brainstem morphology ( J:181945 )

• reduced brainstem volume

abnormal cerebral hemisphere morphology ( J:181945 )

• reduced posterior cerebrum (posterior cortex, thalamic and hypothalamic nuclei) volume

• however, hippocampus size is preserved

decreased corpus callosum size ( J:181945 )

small cerebellum ( J:181945 )

abnormal dendrite morphology ( J:181945 )

• reduced branching and spine number

abnormal dendritic spine morphology ( J:181945 )

• reduced

decreased neuron number ( J:181945 )

• in the posterior cerebral cortex

skeleton

abnormal skeleton morphology ( J:181945 )

• decreased skeleton and skull volume

abnormal cranium size ( J:181945 )

• decreased anteroposterior skull axis

decreased cranium width ( J:181945 )

• decreased anteroposterior skull axes

growth/size/body

decreased body size ( J:181945 )

decreased body weight ( J:181945 )

decreased body length ( J:181945 )

postnatal growth retardation ( J:181945 )

• after 1 week of age

behavior/neurological

behavior/neurological phenotype ( J:181945 )

N • mice exhibit normal motor coordination

impaired cued conditioning behavior ( J:181945 )

• mice exhibit reduced freezing in delay and trace fear conditioning tasks compared with wild-type mice

abnormal spatial working memory ( J:181945 )

• in a Morris water maze

induced hyperactivity ( J:181945 )

• in response to a novel object

adipose tissue

decreased total body fat amount ( J:181945 )

decreased inguinal fat pad weight ( J:181945 )

craniofacial

abnormal cranium size ( J:181945 )

• decreased anteroposterior skull axis

decreased cranium width ( J:181945 )

• decreased anteroposterior skull axes

muscle

abnormal muscle morphology ( J:181945 )

• decreased muscle volume

increased muscle fatigability ( J:181945 )

• on a rotarod

cellular

maternal effect ( J:181945 )

• no offspring born to mated female mice survive

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Williams-Beuren syndrome		DOID:1928	OMIM:194050	J:181945