Phenotypes associated with this allele

• Allele Symbol: Del(5Letm1-D5Mit81)3Jcs
• Allele Name: deletion, Chr 5, John C Schimenti 3
• Allele ID: MGI:3798084
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Del(5Letm1-D5Mit81)3Jcs/+	involves: 129S4/SvJae * C3H * C57BL/6J	MGI:3798297
ht2	Del(5Letm1-D5Mit81)3Jcs/+	involves: 129S4/SvJae * C57BL/6J	MGI:3798286

Genotype
MGI:3798297

ht1

• Allelic Composition: Del(5Letm1-D5Mit81)3Jcs/+
• Genetic Background: involves: 129S4/SvJae * C3H * C57BL/6J

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

growth/size/body

decreased body weight ( J:67077 )

• Background Sensitivity: the severe runting is less severe as the deletion is backcrossed onto the C3H background

Genotype
MGI:3798286

ht2

• Allelic Composition: Del(5Letm1-D5Mit81)3Jcs/+
• Genetic Background: involves: 129S4/SvJae * C57BL/6J

mortality/aging

neonatal lethality, incomplete penetrance ( J:67077 )

growth/size/body

small ears ( J:67077 )

decreased body weight ( J:67077 )

• severe growth retardation averaging only 50-80% ofthe weight of same-sex wildtype littermates

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, but is less evident on other backgrounds

small ears ( J:67077 )

hearing/vestibular/ear

small ears ( J:67077 )

limbs/digits/tail

kinked tail ( J:67077 )

vision/eye

ocular hypertelorism ( J:67077 )

behavior/neurological

abnormal seizure response to electrical stimulation ( J:67077 )

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

nervous system

abnormal seizure response to electrical stimulation ( J:67077 )

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

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