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Phenotypes Associated with This Genotype
Genotype
MGI:5500934
Allelic
Composition
Del(XNxf2-Nxf3)1Jw/+
Genetic
Background
involves: 129S4/SvJae * C57BL/6 * FVB
Find Mice Using the International Mouse Strain Resource (IMSR)
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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


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
12/10/2024
MGI 6.24
The Jackson Laboratory