Phenotypes Associated with This Genotype

Genotype
MGI:7485960

• Allelic Composition: Sbds^{em1(SBDS*)Dbau}/Sbds^{em1(SBDS*)Dbau}
• Genetic Background: C57BL/6J-Sbds^{em1(SBDS*)Dbau}/Dbau

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

cellular

abnormal ribosome biogenesis ( J:335832 )

• MEFs taken from homozygous embryos have impaired 80S ribosome assembly, accumulation of EIF6 on the 60S ribosomal subunit, and induction of a p53-dependent stress response.

mortality/aging

lethality throughout fetal growth and development, complete penetrance ( J:335832 )

• No liveborn homozygotes but homozygous embryos are viable until at least E14.5, distinct from homozygous null mice which die by E8.5

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Shwachman-Diamond syndrome		DOID:0060479	OMIM:260400	J:335832