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Phenotypes Associated with This Genotype
involves: 129/Sv * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nsd1tm1.1Pcn mutation (0 available); any Nsd1 mutation (275 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
• homozygous mutant embryos at E7.5 and at E8.0 were morphologically abnormal and severely growth retarded
• by E9.5, homozygous mutant embryos were degenerating, and no homozygous mutant progeny were seen in heterozygote intercrosses

• at E7.5, embryonic and extraembryonic ectoderm separated by a groove
• some mesoderm cells found between ectoderm and visceral endoderm
• failure to produce mesendoderm
• anteroposterior axis is not specified
• absence of typical egg cylinder shape at E6.5
• ectoderm did not exhibit its characteristic groove and always showed an abnormally large gap
• numerous dying cells with pyknotic nuclei detected on each side of the gap and within the proamniotic cavity
• failure to produce embryonic mesoderm
• markedly disorganized, does not form a node and fails to produce mesendoderm and embryonic mesoderm
• no primitive node is formed
• no headfolds, allantois and proamniotic cavity remain undivided
• embryos with amniotic folds and with proamniotic cavity divided into 3 compartments but indications of apoptosis also appearing

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
NOT Sotos syndrome DOID:14748 OMIM:PS117550

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
MGI 6.21
The Jackson Laboratory