Phenotypes associated with this allele

• Allele Symbol: Sbds^tm1Jrom
• Allele Name: targeted mutation 1, Johanna M Rommens
• Allele ID: MGI:3664792
• Summary: 3 genotypes

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 * 129X1/SvJ	MGI:5446328

Genotype
MGI:3664794

hm1

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

• ♀: 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

Genotype
MGI:3664795

ht2

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

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

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