All Phenotypes Sbds<tm1Jrom> MGI Mouse

Phenotypes associated with this allele

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Sbds^tm1Jrom/Sbds^tm1Jrom	involves: 129S6/SvEvTac * C57BL/6J	MGI:3664794
ht2	Sbds^tm1Jrom/Sbds⁺	involves: 129S6/SvEvTac * C57BL/6J	MGI:3664795
cn3	Sbds^tm1Jrom/Sbds^tm3.1Jrom Ptf1a^tm1(cre)Cvw/Ptf1a⁺	involves: 129S1/Sv * 129S6/SvEvTac * 129X1/SvJ	MGI:5446328

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

mortality/aging

embryonic lethality between implantation and somite formation, complete penetrance ( J:112167 )

• at E7.5 embryos are small, have not undergone gastrulation, and appear to be degrading

embryo

absent inner cell mass proliferation ( J:112167 )

• when blastocysts are collected at E3.5 and cultured for 4 days the inner cell mass fails to grow

failure to gastrulate ( J:112167 )

• at E7.5

embryonic growth arrest ( J:112167 )

• arrest at the egg cylinder stage

decreased embryo size ( J:112167 )

• at E6.5 embryos are about 2/3 the size of heterozygous littermates with the embryonic portion more severely affected than the extraembryonic portion

abnormal embryonic tissue morphology ( J:112167 )

absent proamniotic cavity ( J:112167 )

• at E6.5 2 layered egg cylinders are present but the proamniotic cavitiy is not present

growth/size/body

decreased embryo size ( J:112167 )

• at E6.5 embryos are about 2/3 the size of heterozygous littermates with the embryonic portion more severely affected than the extraembryonic portion

cellular

absent inner cell mass proliferation ( J:112167 )

• when blastocysts are collected at E3.5 and cultured for 4 days the inner cell mass fails to grow

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
NOT	Shwachman-Diamond syndrome	DOID:0060479	OMIM:260400	J:112167

Allelic Composition	Sbds^tm1Jrom/Sbds⁺
Genetic Background	involves: 129S6/SvEvTac * C57BL/6J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Sbds^tm1Jrom mutation (0 available); any Sbds mutation (31 available)

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

normal phenotype

no abnormal phenotype detected ( J:112167 )

• mice are fertile and developmentally normal with no signs of Shwachman-Diamond syndrome related abnormalities through 18 months of age

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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