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Phenotypes Associated with This Genotype
Genotype
MGI:3851517
Allelic
Composition
Nsd2tm1Ykan/Nsd2tm1Ykan
Genetic
Background
involves: 129S2/SvPas * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nsd2tm1Ykan mutation (0 available); any Nsd2 mutation (19 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• some mice are stillborn
• no mice live past 10 days of age

cardiovascular system
• hypoplasia of the septum secundum was observed more frequently in E18.5 embryos than in controls
• all E18.5 embryos have atrial septum defects
• half of E18.5 embryos have membranous ventricular septum defects

craniofacial
• cleft palate is observed in E18.5 embryos

digestive/alimentary system
• cleft palate is observed in E18.5 embryos

growth/size/body
• cleft palate is observed in E18.5 embryos
• after birth, mice exhibit growth retardation before dying
• E18.5 embryos are significantly smaller than controls

skeleton
• E18.5 embryos do not have ossification centers

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
Wolf-Hirschhorn syndrome DOID:0050460 OMIM:194190
J:150360


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
06/20/2017
MGI 6.10
The Jackson Laboratory