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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Del(XNxf2-Nxf3)1Jw
deletion, Chr X, Jeremy Wang 1
MGI:5297602
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
ht1
Del(XNxf2-Nxf3)1Jw/+ involves: 129S4/SvJae * C57BL/6 * FVB MGI:5500934
ot2
Del(XNxf2-Nxf3)1Jw/Y involves: 129S4/SvJae * C57BL/6 * FVB MGI:5584173


Genotype
MGI:5500934
ht1
Allelic
Composition
Del(XNxf2-Nxf3)1Jw/+
Genetic
Background
involves: 129S4/SvJae * C57BL/6 * FVB
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
• about 25% of females survive beyond 4 weeks of age
• 45% of females die within the first 4 days after birth, followed by a lower rate of death until day 24 after which no substantial lethality is seen

growth/size/body
• 15% of females exhibit complete cleft palate at E18.5
• pups that die but have no cleft palate have a lower body weight than pups that survive
• females show normal birth weight, however at 2 weeks of age, females weight nearly 50% less than wild-type females, indicating postnatal developmental delay
• after weaning at 3 weeks of age, females grow and have a similar body weight to wild-type mice at 6 weeks of age

behavior/neurological
• 30 of 35 females exhibit handling seizures
• 6 month old mice display handling and/or audiogenic seizures
• females exhibit spontaneous seizures
• spontaneous seizures appear as periods of rhythmic repetitive spike and sharp wave activity and appear to be of limbic origin

craniofacial
• 15% of females exhibit complete cleft palate at E18.5

digestive/alimentary system
• 15% of females exhibit complete cleft palate at E18.5

nervous system
• 30 of 35 females exhibit handling seizures
• 6 month old mice display handling and/or audiogenic seizures
• females exhibit spontaneous seizures
• spontaneous seizures appear as periods of rhythmic repetitive spike and sharp wave activity and appear to be of limbic origin

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
chromosomal deletion syndrome DOID:0060388 J:210663




Genotype
MGI:5584173
ot2
Allelic
Composition
Del(XNxf2-Nxf3)1Jw/Y
Genetic
Background
involves: 129S4/SvJae * C57BL/6 * FVB
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
• neonatal lethality in all male pups
• all E18.5 male pups delivered by cesarean section develop asphyxia and die immediately after delivery

craniofacial
• all males exhibit complete cleft palate at E18.5
• palatal shelves form at E13.5 but they remain separate without any signs of fusion at E15.5

respiratory system
• from E17.5 onward, lung development is delayed, with lungs developing less septation with thicker interstitial mesenchymal walls
• from E17.5, lungs show thicker interstitial mesenchymal walls
• severe pulmonary hypoplasia
• all E18.5 male pups delivered by cesarean section develop asphyxia and die immediately after delivery, indicating acute respiratory failure

growth/size/body
• all males exhibit complete cleft palate at E18.5
• palatal shelves form at E13.5 but they remain separate without any signs of fusion at E15.5

digestive/alimentary system
• all males exhibit complete cleft palate at E18.5
• palatal shelves form at E13.5 but they remain separate without any signs of fusion at E15.5

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
chromosomal deletion syndrome DOID:0060388 J:210663





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last database update
11/12/2024
MGI 6.24
The Jackson Laboratory