About   Help   FAQ
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 (139 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 (139 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

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

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

respiratory system
• 6.9% incidence of adenocarcinomas in the lung

nervous system
• optic nerve gliomas

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 (139 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 (60 available)
Sptbn1tm1Mish mutation (0 available); any Sptbn1 mutation (139 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)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support.
last database update
04/16/2024
MGI 6.23
The Jackson Laboratory