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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 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
Ift172wim/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
Lmbr1tm1Kng/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
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
• in some
• in the most severe cases the face is asymmetric
• 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
• in the most severe cases the face is 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
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
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
limbs/digits/tail
• 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

skeleton
• 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
Ift172wim/Del(5D5Mit73-D5Mit351)5Jcs
Genetic
Background
involves: 129S4/SvJae * C3HeB/FeJ * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Del(5D5Mit73-D5Mit351)5Jcs mutation (0 available); any Del(5D5Mit73-D5Mit351)5Jcs mutation (0 available)
Ift172wim mutation (0 available); any Ift172 mutation (47 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• lack the ventral midline groove in the neural plate
• markers of V3 interneurons and motor neurons were not expressed

embryo
• 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
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Del(5D5Mit73-D5Mit351)5Jcs mutation (0 available); any Del(5D5Mit73-D5Mit351)5Jcs mutation (0 available)
Hm mutation (3 available); any Hm mutation (3 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
limbs/digits/tail
• retention of skin between digits giving the appearance of webbing
• this phenotype is identical to Hm heterozygotes




Genotype
MGI:3582190
cx6
Allelic
Composition
Lmbr1tm1Kng/Del(5D5Mit73-D5Mit351)5Jcs
Genetic
Background
mixed
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Del(5D5Mit73-D5Mit351)5Jcs mutation (0 available); any Del(5D5Mit73-D5Mit351)5Jcs mutation (0 available)
Lmbr1tm1Kng mutation (0 available); any Lmbr1 mutation (21 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• fewer than expected mutants are present at weaning

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

growth/size/body

skeleton
• 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
• 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
• 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





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last database update
05/15/2018
MGI 6.12
The Jackson Laboratory