Phenotypes associated with this allele

• Allele Symbol: Ptf1a^tm1(cre)Cvw
• Allele Name: targeted mutation 1, Christopher VE Wright
• Allele ID: MGI:2387804
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
cn1	Gt(ROSA)26Sor^tm1Sor/Gt(ROSA)26Sor^+ Ptf1a^tm1(cre)Cvw/Ptf1a^tm2Macd	involves: 129S1/Sv * 129S4/SvJaeSor * 129X1/SvJ	MGI:3807487
cn2	Sbds^tm2.1Jrom/Sbds^tm3.1Jrom Ptf1a^tm1(cre)Cvw/Ptf1a^+	involves: 129S1/Sv * 129X1/SvJ	MGI:5446326
cn3	Sbds^tm1Jrom/Sbds^tm3.1Jrom Ptf1a^tm1(cre)Cvw/Ptf1a^+	involves: 129S1/Sv * 129X1/SvJ	MGI:5446328

Genotype
MGI:3807487

cn1

• Allelic Composition: Gt(ROSA)26Sor^tm1Sor/Gt(ROSA)26Sor⁺; Ptf1a^tm1(cre)Cvw/Ptf1a^tm2Macd
• Genetic Background: involves: 129S1/Sv * 129S4/SvJaeSor * 129X1/SvJ

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

endocrine/exocrine glands

abnormal pancreas development ( J:125691 )

• the ventral pancreas fails to form at E11.5 with the precursor cells reverting to an intestinal epithelial fate

• growth retardation of the dorsal epithelial bud is evident at E11.5

• the dorsal epithelial bud is significantly smaller at E12.5

• at E17.5, the dorsal pancreatic epithelium is a truncated, poorly branched, duct like structure without islet or acinar tissues

Genotype
MGI:5446326

cn2

• Allelic Composition: Sbds^tm2.1Jrom/Sbds^tm3.1Jrom; Ptf1a^tm1(cre)Cvw/Ptf1a⁺
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ

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

Genotype
MGI:5446328

cn3

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

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