Phenotypes associated with this allele

• Allele Symbol: Del(5D5Mit388-D5Mit351)4Jcs
• Allele Name: deletion, Chr 5, John C Schimenti 4
• Allele ID: MGI:3798167
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Del(5D5Mit388-D5Mit351)4Jcs/+	involves: 129S4/SvJae * C57BL/6J	MGI:3798287

Genotype
MGI:3798287

ht1

• Allelic Composition: Del(5D5Mit388-D5Mit351)4Jcs/+
• Genetic Background: involves: 129S4/SvJae * C57BL/6J

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

craniofacial

abnormal craniofacial morphology ( J:67077 )

• Background Sensitivity: the 'Greek warrior helmet' phenotype of domed skull, small ears, and wide set eyes is found on a >50% C57BL/6J background

domed cranium ( J:67077 )

small ears ( J:67077 )

hearing/vestibular/ear

small ears ( J:67077 )

skeleton

domed cranium ( J:67077 )

vision/eye

iris coloboma ( J:67077 )

• iris colobomas in 5 of 38 mice examined

cornea opacity ( J:67077 )

• in several heterozygotes

cataract ( J:67077 )

• 5 of 38 assessed have cataracts

ocular hypertelorism ( J:67077 )

behavior/neurological

abnormal seizure response to electrical stimulation ( J:67077 )

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

nervous system

abnormal seizure response to electrical stimulation ( J:67077 )

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

abnormal corpora quadrigemina morphology ( J:67077 )

abnormal cerebral cortex morphology ( J:67077 )

• 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

atelectasis ( J:67077 )

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

growth/size/body

small ears ( J:67077 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Wolf-Hirschhorn syndrome		DOID:0050460	OMIM:194190	J:67077