Phenotypes Associated with This Genotype

Genotype
MGI:2668882

• Allelic Composition: Nsd1^tm1.1Pcn/Nsd1^tm1.1Pcn
• Genetic Background: involves: 129/Sv * C57BL/6

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:83923 )

• 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

abnormal developmental patterning ( J:83923 )

abnormal gastrulation movements ( J:83923 )

• at E7.5, embryonic and extraembryonic ectoderm separated by a groove

• some mesoderm cells found between ectoderm and visceral endoderm

abnormal mesendoderm development ( J:83923 )

• failure to produce mesendoderm

abnormal rostral-caudal axis patterning ( J:83923 )

• anteroposterior axis is not specified

abnormal egg cylinder morphology ( J:83923 )

• 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

absent mesoderm ( J:83923 )

• failure to produce embryonic mesoderm

abnormal primitive streak morphology ( J:83923 )

• markedly disorganized, does not form a node and fails to produce mesendoderm and embryonic mesoderm

absent primitive node ( J:83923 )

• no primitive node is formed

abnormal extraembryonic tissue morphology ( J:83923 )

• 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