Phenotypes associated with this allele

• Allele Symbol: Del(5D5Mit73-D5Mit351)5Jcs
• Allele Name: deletion, Chr 5, John C Schimenti 5
• Allele ID: MGI:3798174
• Summary: 6 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
ht3	Del(5D5Mit73-D5Mit351)5Jcs/+	mixed	MGI:3582188
cx4	Ift172^wim/Del(5D5Mit73-D5Mit351)5Jcs	involves: 129S4/SvJae * C3HeB/FeJ * C57BL/6J	MGI:3027424
cx5	Hm/Del(5D5Mit73-D5Mit351)5Jcs	involves: 129S4/SvJae * C57BL/6J	MGI:3027472
cx6	Lmbr1^tm1Kng/Del(5D5Mit73-D5Mit351)5Jcs	mixed	MGI:3582190

Genotype
MGI:3798298

ht1

• Allelic Composition: Del(5D5Mit73-D5Mit351)5Jcs/+
• 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:3798288

ht2

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

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

Genotype
MGI:3582188

ht3

• Allelic Composition: Del(5D5Mit73-D5Mit351)5Jcs/+
• Genetic Background: mixed

limbs/digits/tail

fused carpal bones ( J:72166 )

• minor coalitions of the distal wrist bones are seen in 25% of heterozygotes, including fusions of the central to distal carpals 2 or 3

growth/size/body

decreased body size ( J:72166 )

skeleton

fused carpal bones ( J:72166 )

• minor coalitions of the distal wrist bones are seen in 25% of heterozygotes, including fusions of the central to distal carpals 2 or 3

Genotype
MGI:3027424

cx4

• Allelic Composition: Ift172^wim/Del(5D5Mit73-D5Mit351)5Jcs
• Genetic Background: involves: 129S4/SvJae * C3HeB/FeJ * C57BL/6J

nervous system

abnormal floor plate morphology ( J:86437 )

• lack the ventral midline groove in the neural plate

• markers of V3 interneurons and motor neurons were not expressed

embryo

abnormal floor plate morphology ( J:86437 )

• lack the ventral midline groove in the neural plate

• markers of V3 interneurons and motor neurons were not expressed

Genotype
MGI:3027472

cx5

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

limbs/digits/tail

interdigital webbing ( J:63451 )

• retention of skin between digits giving the appearance of webbing

• this phenotype is identical to Hm heterozygotes

Genotype
MGI:3582190

cx6

• Allelic Composition: Lmbr1^tm1Kng/Del(5D5Mit73-D5Mit351)5Jcs
• Genetic Background: mixed

mortality/aging

postnatal lethality, incomplete penetrance ( J:72166 )

• fewer than expected mutants are present at weaning

limbs/digits/tail

abnormal carpal bone morphology ( J:72166 )

• severe coalitions or reductions of the distal wrist bones involving distal carpal 2, 3 and/or the central as well as other distal carpals are seen in all mutants

• coalitions or reductions of the proximal wrist bones were seen in 36 out of 38 mutants

brachyphalangia ( J:72166 )

oligodactyly ( J:72166 )

• 55% of mutants had fewer than 5 digits with one third of these having only 3 digits

syndactyly ( J:72166 )

abnormal radius morphology ( J:72166 )

• in forelimbs with severely affected wrists the distal ends of the radius and ulna are sometimes narrow and the junction of the radius and ulna is disorganized

abnormal ulna morphology ( J:72166 )

• in forelimbs with severely affected wrists the distal ends of the radius and ulna are sometimes narrow and the junction of the radius and ulna is disorganized

growth/size/body

decreased body size ( J:72166 )

skeleton

abnormal carpal bone morphology ( J:72166 )

• severe coalitions or reductions of the distal wrist bones involving distal carpal 2, 3 and/or the central as well as other distal carpals are seen in all mutants

• coalitions or reductions of the proximal wrist bones were seen in 36 out of 38 mutants

brachyphalangia ( J:72166 )

abnormal radius morphology ( J:72166 )

• in forelimbs with severely affected wrists the distal ends of the radius and ulna are sometimes narrow and the junction of the radius and ulna is disorganized

abnormal ulna morphology ( J:72166 )

• in forelimbs with severely affected wrists the distal ends of the radius and ulna are sometimes narrow and the junction of the radius and ulna is disorganized