Phenotypes Associated with This Genotype

Genotype
MGI:3817221

• Allelic Composition: Sox9^tm1Gsr/Sox9⁺; Tg(Pdx1-cre)6Cvw/0
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * C57BL/6J * CBA * FVB/N

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

endocrine/exocrine glands

endocrine/exocrine gland phenotype ( J:141017 )

N • despite islet cell hypoplasia, pancreas size, weight, morphology and pancreatic exocrine differentiation are normal at E18.5

decreased PP cell number ( J:141017 )

• at E18.5, the numbers of polypeptide producing cells are reduced compared to wild-type mice

decreased pancreatic alpha cell mass ( J:141017 )

• at E18.5, alpha cell mass is reduced 55% compared to in wild-type mice

decreased pancreatic beta cell mass ( J:141017 )

• at E18.5, beta cell mass is reduced 57% compared to in wild-type mice

• however, beta cell differentiation is normal

decreased pancreatic delta cell number ( J:141017 )

• at E18.5, delta cell numbers are decreased compared to in wild-type mice

pancreatic islet hyperplasia ( J:141017 )

• mice exhibit islet hyperplasia

abnormal pancreas development ( J:141017 )

• the number of pancreatic endocrine progenitor cells is 2-fold less than in wild-type mice due to decreased cell proliferation of endocrine progenitor cells

• however, exocrine progenitor cells are normal in number and proliferation

decreased glucagon secretion ( J:141017 )

• pancreatic glucagons is reduced 34.9% compared to in wild-type

decreased insulin secretion ( J:141017 )

• pancreatic insulin production is decreased 44% compared to in wild-type mice

digestive/alimentary system

digestive/alimentary phenotype ( J:141017 )

N • despite islet cell hypoplasia, pancreas size, weight, morphology and pancreatic exocrine differentiation are normal at E18.5

homeostasis/metabolism

decreased glucagon secretion ( J:141017 )

• pancreatic glucagons is reduced 34.9% compared to in wild-type

decreased insulin secretion ( J:141017 )

• pancreatic insulin production is decreased 44% compared to in wild-type mice

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
campomelic dysplasia		DOID:0050463	OMIM:114290	J:141017