All Phenotypes Sbds<tm2.1Jrom> MGI Mouse

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Phenotypes associated with this allele

Allele Symbol
Allele Name
Allele ID

Sbds^tm2.1Jrom
targeted mutation 2.1, Johanna M Rommens
MGI:5446042

Summary

2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Sbds^tm2.1Jrom/Sbds^tm2.1Jrom	Not Specified	MGI:5446324
cn2	Sbds^tm2.1Jrom/Sbds^tm3.1Jrom Ptf1a^tm1(cre)Cvw/Ptf1a⁺	involves: 129S1/Sv * 129X1/SvJ	MGI:5446326

Allelic Composition	Sbds^tm2.1Jrom/Sbds^tm2.1Jrom
Genetic Background	Not Specified

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Sbds^tm2.1Jrom 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

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

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ptf1a^tm1(cre)Cvw mutation (0 available); any Ptf1a mutation (31 available)
Sbds^tm2.1Jrom mutation (0 available); any Sbds mutation (31 available)
Sbds^tm3.1Jrom 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

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

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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