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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID 		Sbdstm3.1Jrom
targeted mutation 3.1, Johanna M Rommens
MGI:5446043
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
cn1
 		Sbdstm2.1Jrom/Sbdstm3.1Jrom
Ptf1atm1(cre)Cvw/Ptf1a+ 		involves: 129S1/Sv * 129X1/SvJ MGI:5446326
cn2
 		Sbdstm1Jrom/Sbdstm3.1Jrom
Ptf1atm1(cre)Cvw/Ptf1a+ 		involves: 129S1/Sv * 129X1/SvJ MGI:5446328


Genotype
MGI:5446326
cn1
Allelic
Composition		 Sbdstm2.1Jrom/Sbdstm3.1Jrom
Ptf1atm1(cre)Cvw/Ptf1a+
Genetic
Background		 involves: 129S1/Sv * 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ptf1atm1(cre)Cvw mutation (0 available); any Ptf1a mutation (31 available)
Sbdstm2.1Jrom mutation (0 available); any Sbds mutation (31 available)
Sbdstm3.1Jrom mutation (0 available); any Sbds mutation (31 available)
♀ 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

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
cn2
Allelic
Composition		 Sbdstm1Jrom/Sbdstm3.1Jrom
Ptf1atm1(cre)Cvw/Ptf1a+
Genetic
Background		 involves: 129S1/Sv * 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ptf1atm1(cre)Cvw mutation (0 available); any Ptf1a mutation (31 available)
Sbdstm1Jrom mutation (0 available); any Sbds mutation (31 available)
Sbdstm3.1Jrom mutation (0 available); any Sbds mutation (31 available)
♀ 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
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




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Send questions and comments to User Support. 		last database update
12/10/2024
MGI 6.24 		The Jackson Laboratory