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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Nsd1tm1.1Pcn
targeted mutation 1.1, Pierre Chambon
MGI:2667262
Summary 1 genotype
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Nsd1tm1.1Pcn/Nsd1tm1.1Pcn involves: 129/Sv * C57BL/6 MGI:2668882


Genotype
MGI:2668882
hm1
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 (279 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
• by E9.5, homozygous mutant embryos were degenerating, and no homozygous mutant progeny were seen in heterozygote intercrosses

embryo
• 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
J:83923





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last database update
10/29/2024
MGI 6.24
The Jackson Laboratory