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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Del(5D5Mit73-D5Mit351)5Jcs
deletion, Chr 5, John C Schimenti 5
MGI:3798174
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
ht1
Del(5D5Mit73-D5Mit351)5Jcs/+ involves: 129S4/SvJae * C3H * C57BL/6J MGI:3798298
ht2
Del(5D5Mit73-D5Mit351)5Jcs/+ involves: 129S4/SvJae * C57BL/6J MGI:3798288


Genotype
MGI:3798298
ht1
Allelic
Composition
Del(5D5Mit73-D5Mit351)5Jcs/+
Genetic
Background
involves: 129S4/SvJae * C3H * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
No mouse lines available in IMSR.
See publication links below for author information.
phenotype observed in females
phenotype observed in males
N normal phenotype
growth/size/body
• Background Sensitivity: the severe runting is less severe as the deletion is backcrossed onto the C3H background




Genotype
MGI:3798288
ht2
Allelic
Composition
Del(5D5Mit73-D5Mit351)5Jcs/+
Genetic
Background
involves: 129S4/SvJae * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
No mouse lines available in IMSR.
See publication links below for author information.
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging

growth/size/body
• some have misshapened palatine ridges
• Background Sensitivity: severe growth retardation averaging only 50-80% of the weight of same-sex wildtype littermates

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
• in some
• in the most severe cases the face is asymmetric and/or the jaw bones are asymmetric
• some have misshapened palatine ridges

hearing/vestibular/ear

limbs/digits/tail

skeleton
• in some

vision/eye
• found in some

digestive/alimentary system
• some have misshapened palatine ridges

behavior/neurological
N
• Morris water maze performance normal
• froglike gait with hindlimbs splayed outward during locomotion
• 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

nervous system
• 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
• intraculminate fissure, posterior fissure, and uvular cus are lacking
• hypoplasia of the cerebral cortex results in colliculi being more exposed

Mouse Models of Human Disease
OMIM ID Ref(s)
Wolf-Hirschhorn Syndrome; WHS 194190 J:67077





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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
08/23/2016
MGI 6.05
The Jackson Laboratory