Mouse Genome Informatics
ht
    Del(5D5Mit388-D5Mit351)4Jcs/+
involves: 129S4/SvJae * C57BL/6J
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
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 IDRef(s)
Wolf-Hirschhorn Syndrome; WHS 194190 J:67077