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Phenotypes Associated with This Genotype
Genotype
MGI:2668882
Allelic
Composition
Nsd1tm1.1Pcn/Nsd1tm1.1Pcn
Genetic
Background
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 (224 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• homozygous mutant embryos at E7.5 and at E8.0 were morphologically abnormal and severely growth retarded (J:83923)
• by E9.5, homozygous mutant embryos were degenerating, and no homozygous mutant progeny were seen in heterozygote intercrosses (J:83923)
• homozygous mutant embryos at E7.5 and at E8.0 were morphologically abnormal and severely growth retarded (J:83923)
• by E9.5, homozygous mutant embryos were degenerating, and no homozygous mutant progeny were seen in heterozygote intercrosses (J:83923)

embryogenesis
• at E7.5, embryonic and extraembryonic ectoderm separated by a groove (J:83923)
• some mesoderm cells found between ectoderm and visceral endoderm (J:83923)
• at E7.5, embryonic and extraembryonic ectoderm separated by a groove (J:83923)
• some mesoderm cells found between ectoderm and visceral endoderm (J:83923)
• markedly disorganized, does not form a node and fails to produce mesendoderm and embryonic mesoderm (J:83923)
• markedly disorganized, does not form a node and fails to produce mesendoderm and embryonic mesoderm (J:83923)
• no primitive node is formed (J:83923)
• no primitive node is formed (J:83923)
• failure to produce mesendoderm (J:83923)
• failure to produce mesendoderm (J:83923)
• failure to produce embryonic mesoderm (J:83923)
• failure to produce embryonic mesoderm (J:83923)
• anteroposterior axis is not specified (J:83923)
• anteroposterior axis is not specified (J:83923)
• absence of typical egg cylinder shape at E6.5 (J:83923)
• ectoderm did not exhibit its characteristic groove and always showed an abnormally large gap (J:83923)
• numerous dying cells with pyknotic nuclei detected on each side of the gap and within the proamniotic cavity (J:83923)
• absence of typical egg cylinder shape at E6.5 (J:83923)
• ectoderm did not exhibit its characteristic groove and always showed an abnormally large gap (J:83923)
• numerous dying cells with pyknotic nuclei detected on each side of the gap and within the proamniotic cavity (J:83923)
• no headfolds, allantois and proamniotic cavity remain undivided (J:83923)
• embryos with amniotic folds and with proamniotic cavity divided into 3 compartments but indications of apoptosis also appearing (J:83923)
• no headfolds, allantois and proamniotic cavity remain undivided (J:83923)
• embryos with amniotic folds and with proamniotic cavity divided into 3 compartments but indications of apoptosis also appearing (J:83923)

Mouse Models of Human Disease
OMIM ID Ref(s)
NOT Sotos Syndrome 1; SOTOS1 117550 J:83923


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
02/02/2016
MGI 6.02
The Jackson Laboratory