Phenotypes Associated with This Genotype

Genotype
MGI:5446328

• Allelic Composition: Sbds^tm1Jrom/Sbds^tm3.1Jrom; Ptf1a^tm1(cre)Cvw/Ptf1a⁺
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ

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

growth/size/body

decreased body length ( J:189357 )

• nasal to anus length reduced at 30 days of age

postnatal growth retardation ( J:189357 )

• growth impairment by 10 days of age

endocrine/exocrine glands

abnormal pancreatic islet size ( J:189357 )

• reduction in islet diameter at 1 month of age

small pancreas ( J:189357 )

• reduced pancreata at 30 days

pancreas hypoplasia ( J:189357 )

• few acini and prominent connective tissue

homeostasis/metabolism

decreased circulating amylase level ( J:189357 )

• low serum amylase

impaired glucose tolerance ( J:189357 )

• at 12 months of age

• insulin tolerance normal at 12 months

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Shwachman-Diamond syndrome		DOID:0060479	OMIM:260400	J:189357