Phenotypes for Ptf1a Sbds MGI:5446328 MGI Mouse

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Phenotypes Associated with This Genotype

Allelic Composition	Sbds^tm1Jrom/Sbds^tm3.1Jrom Ptf1a^tm1(cre)Cvw/Ptf1a⁺
Genetic Background	involves: 129S1/Sv * 129S6/SvEvTac * 129X1/SvJ

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ptf1a^tm1(cre)Cvw mutation (0 available); any Ptf1a mutation (30 available)
Sbds^tm1Jrom 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

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

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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