Phenotypes associated with this allele

• Allele Symbol: Del(5D5Mit148-Qdpr)2Jcs
• Allele Name: deletion, Chr 5, John C Schimenti 2
• Allele ID: MGI:3798083
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Del(5D5Mit148-Qdpr)2Jcs/+	involves: 129S4/SvJae * C3H * C57BL/6J	MGI:3798299
ht2	Del(5D5Mit148-Qdpr)2Jcs/+	involves: 129S4/SvJae * C57BL/6J	MGI:3798284

Genotype
MGI:3798299

ht1

• Allelic Composition: Del(5D5Mit148-Qdpr)2Jcs/+
• 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:3798284

ht2

• Allelic Composition: Del(5D5Mit148-Qdpr)2Jcs/+
• 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 )

• Background Sensitivity: severe growth retardation such that females are approximately 60% of wildtype weight and males are approximately 50% of wildtype weight between 4 and 12 weeks of age

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

domed cranium ( J:67077 )

small ears ( J:67077 )

hearing/vestibular/ear

small ears ( J:67077 )

skeleton

domed cranium ( J:67077 )

vision/eye

vision/eye phenotype ( J:67077 )

N • no corneal opacities are found

ocular hypertelorism ( J:67077 )

limbs/digits/tail

kinked tail ( J:67077 )

behavior/neurological

behavior/neurological phenotype ( J:67077 )

N • Morris water maze performance normal

abnormal gait ( J:67077 )

• froglike gait with hindlimbs splayed outward during locomotion

nervous system

abnormal cerebellar lobule formation ( J:67077 )

• intraculminate fissue, posterior fissure, and uvular cus are lacking

abnormal corpora quadrigemina morphology ( J:67077 )

abnormal cerebral cortex morphology ( J:67077 )

• hypoplasia of the cerebral cortex results in colliculi being more exposed

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