Phenotypes Associated with This Genotype

Genotype
MGI:3798288

• Allelic Composition: Del(5D5Mit73-D5Mit351)5Jcs/+
• Genetic Background: involves: 129S4/SvJae * C57BL/6J

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

mortality/aging

neonatal lethality, incomplete penetrance ( J:67077 )

growth/size/body

malocclusion ( J:67077 )

• in some

facial asymmetry ( J:67077 )

• in the most severe cases the face is asymmetric

abnormal palatal rugae morphology ( J:67077 )

• some have misshapened palatine ridges

asymmetric snout ( J:67077 )

small ears ( J:67077 )

decreased body weight ( J:67077 )

• Background Sensitivity: severe growth retardation averaging only 50-80% of the 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

malocclusion ( J:67077 )

• in some

domed cranium ( J:67077 )

craniofacial asymmetry ( J:67077 )

• in the most severe cases the face is asymmetric and/or the jaw bones are asymmetric

facial asymmetry ( J:67077 )

• in the most severe cases the face is asymmetric

abnormal palatal rugae morphology ( J:67077 )

• some have misshapened palatine ridges

asymmetric snout ( J:67077 )

small ears ( J:67077 )

hearing/vestibular/ear

small ears ( J:67077 )

limbs/digits/tail

kinked tail ( J:67077 )

skeleton

malocclusion ( J:67077 )

• in some

domed cranium ( J:67077 )

vision/eye

cornea opacity ( J:67077 )

coloboma ( J:67077 )

• found in some

ocular hypertelorism ( J:67077 )

digestive/alimentary system

abnormal palatal rugae morphology ( J:67077 )

• some have misshapened palatine ridges

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

seizures ( J:67077 )

• although there is a trend for increased seizure incidence, statistical significance was not found, but severity of seizure is much greater than in controls with half of the seizures in heterozygotes being maximal

maximal tonic hindlimb extension seizures ( J:67077 )

nervous system

seizures ( J:67077 )

• although there is a trend for increased seizure incidence, statistical significance was not found, but severity of seizure is much greater than in controls with half of the seizures in heterozygotes being maximal

maximal tonic hindlimb extension seizures ( J:67077 )

abnormal cerebellar lobule formation ( J:67077 )

• intraculminate fissure, 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