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Phenotypes Associated with This Genotype
Genotype
MGI:5314953
Allelic
Composition
Eif4hGt(Ex279)Byg/Eif4hGt(Ex279)Byg
Genetic
Background
involves: 129P2/OlaHsd * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Eif4hGt(Ex279)Byg mutation (0 available); any Eif4h mutation (26 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
reproductive system
• female mice produce smaller than normal litters, none of which survive
• female mice mated to wild-type male mice produce smaller than normal litters, no of which survive

nervous system
• reduced brainstem volume
• reduced posterior cerebrum (posterior cortex, thalamic and hypothalamic nuclei) volume
• however, hippocampus size is preserved
• reduced branching and spine number
• in the posterior cerebral cortex

skeleton
• decreased skeleton and skull volume
• decreased anteroposterior skull axis
• decreased anteroposterior skull axes

growth/size/body
• after 1 week of age

behavior/neurological
N
• mice exhibit normal motor coordination
• mice exhibit reduced freezing in delay and trace fear conditioning tasks compared with wild-type mice
• in a Morris water maze
• in response to a novel object

adipose tissue

craniofacial
• decreased anteroposterior skull axis
• decreased anteroposterior skull axes

muscle
• decreased muscle volume
• on a rotarod

other phenotype
• no offspring born to mated female mice survive

Mouse Models of Human Disease
OMIM ID Ref(s)
Williams-Beuren Syndrome; WBS 194050 J:181945


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
04/26/2016
MGI 6.03
The Jackson Laboratory