Phenotypes Associated with This Genotype

Genotype
MGI:3664794

• Allelic Composition: Sbds^tm1Jrom/Sbds^tm1Jrom
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6J

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

mortality/aging

embryonic lethality between implantation and somite formation, complete penetrance ( J:112167 )

• at E7.5 embryos are small, have not undergone gastrulation, and appear to be degrading

embryo

absent inner cell mass proliferation ( J:112167 )

• when blastocysts are collected at E3.5 and cultured for 4 days the inner cell mass fails to grow

failure to gastrulate ( J:112167 )

• at E7.5

embryonic growth arrest ( J:112167 )

• arrest at the egg cylinder stage

decreased embryo size ( J:112167 )

• at E6.5 embryos are about 2/3 the size of heterozygous littermates with the embryonic portion more severely affected than the extraembryonic portion

abnormal embryonic tissue morphology ( J:112167 )

absent proamniotic cavity ( J:112167 )

• at E6.5 2 layered egg cylinders are present but the proamniotic cavitiy is not present

growth/size/body

decreased embryo size ( J:112167 )

• at E6.5 embryos are about 2/3 the size of heterozygous littermates with the embryonic portion more severely affected than the extraembryonic portion

cellular

absent inner cell mass proliferation ( J:112167 )

• when blastocysts are collected at E3.5 and cultured for 4 days the inner cell mass fails to grow

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
NOT	Shwachman-Diamond syndrome	DOID:0060479	OMIM:260400	J:112167