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Phenotypes Associated with This Genotype
Genotype
MGI:3798287
Allelic
Composition
Del(5D5Mit388-D5Mit351)4Jcs/+
Genetic
Background
involves: 129S4/SvJae * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
No mouse lines available in IMSR.
See publication links below for author information.
phenotype observed in females
phenotype observed in males
N normal phenotype
craniofacial
• Background Sensitivity: the 'Greek warrior helmet' phenotype of domed skull, small ears, and wide set eyes is found on a >50% C57BL/6J background

hearing/vestibular/ear

skeleton

vision/eye
• iris colobomas in 5 of 38 mice examined
• in several heterozygotes
• 5 of 38 assessed have cataracts

behavior/neurological
• 85% of heterozygotes seize in response to a high frequency electroconvulsive stimulus

nervous system
• 85% of heterozygotes seize in response to a high frequency electroconvulsive stimulus
• hypoplasia of the cerebral cortex results in colluculi being more exposed, although lobulation defects, which are found in other deletions in this region, are not observed

respiratory system
• by the third backcross onto C57BL/6J nearly all newborns die immediately after birth with collapsed lungs

growth/size/body

Mouse Models of Human Disease
OMIM ID Ref(s)
Wolf-Hirschhorn Syndrome; WHS 194190 J:67077


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
06/22/2016
MGI 6.04
The Jackson Laboratory