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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Sptbn1tm1Mish
targeted mutation 1, Lopa Mishra
MGI:2450327
Summary 4 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Sptbn1tm1Mish/Sptbn1tm1Mish either: (involves: 129S6/SvEvTac * C57BL/6) or (involves: 129S6/SvEvTac * NIH Black Swiss) MGI:2450867
ht2
Sptbn1tm1Mish/Sptbn1+ involves: 129S6/SvEvTac MGI:4936861
ht3
Sptbn1tm1Mish/Sptbn1+ involves: 129S6/SvEvTac * C57BL/6 MGI:3783627
cx4
Itih4tm1Mish/Itih4tm1Mish
Sptbn1tm1Mish/Sptbn1+
involves: 129S6/SvEvTac * C57BL/6 * NIH Black Swiss MGI:3783628


Genotype
MGI:2450867
hm1
Allelic
Composition
Sptbn1tm1Mish/Sptbn1tm1Mish
Genetic
Background
either: (involves: 129S6/SvEvTac * C57BL/6) or (involves: 129S6/SvEvTac * NIH Black Swiss)
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Sptbn1tm1Mish mutation (0 available); any Sptbn1 mutation (99 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• abnormal or degenerating embryos detected between E8.5 and E16.5

cardiovascular system
• lack of branching network of vessels in yolk sac
• absence of trabeculated pattern of myocardial tissue; myoblasts were hyperplastic and lacked linear arrangement of nuclei
• small ventricular lumen; occlusion of atrioventricular region

craniofacial

digestive/alimentary system
• aberrant gut formation

embryo
• lack of branching network of vessels in yolk sac
• smaller body and head size, evident at E9.5

growth/size/body
• smaller body and head size, evident at E9.5

liver/biliary system
• distorted architecture

muscle
• absence of trabeculated pattern of myocardial tissue; myoblasts were hyperplastic and lacked linear arrangement of nuclei

nervous system
• abnormal anatomy of primary brain vesicles




Genotype
MGI:4936861
ht2
Allelic
Composition
Sptbn1tm1Mish/Sptbn1+
Genetic
Background
involves: 129S6/SvEvTac
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Sptbn1tm1Mish mutation (0 available); any Sptbn1 mutation (99 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Beckwith-Wiedemann Syndrome-like phenotypes in Sptbn1tm1Mish/Spnb2+ mice

respiratory system
• 6.9% incidence of adenocarcinomas in the lung

nervous system
• optic nerve gliomas

mortality/aging
• increase in incidence of sudden death in males

growth/size/body
• cardiomegaly
• macroglossia
• multiple ear folds
• adrenal cysts
• 25% increase in average body size and mass compared to wild-type
• renal hypertrophy
• visceromegaly

neoplasm
• adrenocortical carcinomas
• 3.4% incidence of epithelial tumors in the ovary
• 3.4% incidence of testicular carcinomas
• 37.9-40% increase in incidence of liver tumors
• 3.4% incidence of breast adenomas
• 6.9% incidence of spleen lymphomas
• pancreatic carcinomas and adrenocortical carcinomas
• 3.4% incidence of testicular carcinomas
• 6.9% incidence of adenocarcinomas in the lung
• 10.3% incidence of renal cell carcinomas
• 3.4% incidence of abdominal/mesenchymal sarcomas
• optic nerve gliomas

hearing/vestibular/ear
• multiple ear folds

integument
• frontal balding

cardiovascular system
• cardiomegaly

craniofacial
• macroglossia
• multiple ear folds

digestive/alimentary system
• macroglossia

endocrine/exocrine glands
• adrenal cysts
• adrenocortical carcinomas
• 3.4% incidence of epithelial tumors in the ovary
• 3.4% incidence of testicular carcinomas

liver/biliary system
• multilobed livers
• 37.9-40% increase in incidence of liver tumors

renal/urinary system
• renal hypertrophy
• 10.3% incidence of renal cell carcinomas

reproductive system
• 3.4% incidence of epithelial tumors in the ovary
• 3.4% incidence of testicular carcinomas

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
Beckwith-Wiedemann syndrome DOID:5572 OMIM:130650
J:166879




Genotype
MGI:3783627
ht3
Allelic
Composition
Sptbn1tm1Mish/Sptbn1+
Genetic
Background
involves: 129S6/SvEvTac * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Sptbn1tm1Mish mutation (0 available); any Sptbn1 mutation (99 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
neoplasm
• mice spontaneously develop tumors of the liver with an incidence of 40%
• lesions included early centrilobular steatosis and dysplasia with nuclear disarray and stratification
• many of these lesions progress to poorly differentiated carcinomas

liver/biliary system
• apoptosis rates are lower among hepatocytes potentially leading to lesion formation
• mice spontaneously develop tumors of the liver with an incidence of 40%
• lesions included early centrilobular steatosis and dysplasia with nuclear disarray and stratification
• many of these lesions progress to poorly differentiated carcinomas

cellular
• apoptosis rates are lower among hepatocytes potentially leading to lesion formation




Genotype
MGI:3783628
cx4
Allelic
Composition
Itih4tm1Mish/Itih4tm1Mish
Sptbn1tm1Mish/Sptbn1+
Genetic
Background
involves: 129S6/SvEvTac * C57BL/6 * NIH Black Swiss
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Itih4tm1Mish mutation (0 available); any Itih4 mutation (44 available)
Sptbn1tm1Mish mutation (0 available); any Sptbn1 mutation (99 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
neoplasm
• only 1 mouse in 25 developed a liver neoplasm compared to the 40% incidence rate observed in mice carrying just one null allele for Spnb2
• the lone tumor was about 10-fold smaller than the mean tumor sizes observed in the control mice

liver/biliary system
• apoptosis rates are lower in hepatocytes compared to control mice
• hepatocyte proliferation is lower than in controls
• only 1 mouse in 25 developed a liver neoplasm compared to the 40% incidence rate observed in mice carrying just one null allele for Spnb2
• the lone tumor was about 10-fold smaller than the mean tumor sizes observed in the control mice

cellular
• apoptosis rates are lower in hepatocytes compared to control mice
• hepatocyte proliferation is lower than in controls





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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last database update
09/22/2022
MGI 6.21
The Jackson Laboratory