Phenotypes Associated with This Genotype

Genotype
MGI:5446326

• Allelic Composition: Sbds^tm2.1Jrom/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

embryo

embryo phenotype ( J:189357 )

N • no prenatal pathology at E18.5

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 apparent by 20 days of age

endocrine/exocrine glands

pancreatic acinar hypoplasia ( J:189357 )

• few acinar lobules at 13 months and prominent connective tissue

• little cytoplasmic staining at 25 days

• no immunoreactive amylase and chymotrypsinogen transcript is reduced

• reduced number of zymogen granules

• islets remain intact

abnormal pancreatic islet size ( J:189357 )

• slight reduction in islet diameter at 1 month of age

small pancreas ( J:189357 )

• reduced pancreata at 30 days

pancreas lipomatosis ( J:189357 )

• fat cell infiltration of pancreas

homeostasis/metabolism

decreased circulating amylase level ( J:189357 )

• low serum amylase

digestive/alimentary system

pancreatic acinar hypoplasia ( J:189357 )

• few acinar lobules at 13 months and prominent connective tissue

• little cytoplasmic staining at 25 days

• no immunoreactive amylase and chymotrypsinogen transcript is reduced

• reduced number of zymogen granules

• islets remain intact

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