Phenotypes Associated with This Genotype

Genotype
MGI:4936861

• Allelic Composition: Sptbn1^tm1Mish/Sptbn1⁺
• Genetic Background: involves: 129S6/SvEvTac

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

Beckwith-Wiedemann Syndrome-like phenotypes in Sptbn1^tm1Mish/Spnb2⁺ mice

mortality/aging

premature death ( J:166879 )

• increase in incidence of sudden death in males

growth/size/body

enlarged heart ( J:166879 )

• cardiomegaly

increased tongue size ( J:166879 )

• macroglossia

abnormal outer ear morphology ( J:166879 )

• multiple ear folds

adrenal gland cyst ( J:166879 )

• adrenal cysts

increased body size ( J:166879 )

• 25% increase in average body size and mass compared to wild-type

enlarged kidney ( J:166879 )

• renal hypertrophy

visceromegaly ( J:166879 )

• visceromegaly

neoplasm

increased adrenal cortical tumor incidence ( J:166879 )

• adrenocortical carcinomas

increased ovary tumor incidence ( J:166879 )

♀ • 3.4% incidence of epithelial tumors in the ovary

increased testis tumor incidence ( J:166879 )

♂ • 3.4% incidence of testicular carcinomas

increased liver tumor incidence ( J:166879 )

• 37.9-40% increase in incidence of liver tumors

increased hepatocellular carcinoma incidence ( J:166879 )

increased adenoma incidence ( J:166879 )

• 3.4% incidence of breast adenomas

increased lymphoma incidence ( J:166879 )

• 6.9% incidence of spleen lymphomas

increased carcinoma incidence ( J:166879 )

• pancreatic carcinomas and adrenocortical carcinomas

• 3.4% incidence of testicular carcinomas

increased thyroid carcinoma incidence ( J:166879 )

increased lung adenocarcinoma incidence ( J:166879 )

• 6.9% incidence of adenocarcinomas in the lung

increased renal carcinoma incidence ( J:166879 )

• 10.3% incidence of renal cell carcinomas

increased sarcoma incidence ( J:166879 )

• 3.4% incidence of abdominal/mesenchymal sarcomas

increased glioma incidence ( J:166879 )

• optic nerve gliomas

hearing/vestibular/ear

abnormal outer ear morphology ( J:166879 )

• multiple ear folds

integument

alopecia ( J:166879 )

• frontal balding

cardiovascular system

enlarged heart ( J:166879 )

• cardiomegaly

craniofacial

increased tongue size ( J:166879 )

• macroglossia

abnormal outer ear morphology ( J:166879 )

• multiple ear folds

digestive/alimentary system

increased tongue size ( J:166879 )

• macroglossia

endocrine/exocrine glands

adrenal gland cyst ( J:166879 )

• adrenal cysts

increased adrenal cortical tumor incidence ( J:166879 )

• adrenocortical carcinomas

increased thyroid carcinoma incidence ( J:166879 )

increased ovary tumor incidence ( J:166879 )

♀ • 3.4% incidence of epithelial tumors in the ovary

enlarged testis ( J:166879 )

♂

increased testis tumor incidence ( J:166879 )

♂ • 3.4% incidence of testicular carcinomas

liver/biliary system

abnormal liver morphology ( J:166879 )

• multilobed livers

increased liver tumor incidence ( J:166879 )

• 37.9-40% increase in incidence of liver tumors

increased hepatocellular carcinoma incidence ( J:166879 )

renal/urinary system

enlarged kidney ( J:166879 )

• renal hypertrophy

increased renal carcinoma incidence ( J:166879 )

• 10.3% incidence of renal cell carcinomas

reproductive system

increased ovary tumor incidence ( J:166879 )

♀ • 3.4% incidence of epithelial tumors in the ovary

enlarged testis ( J:166879 )

♂

increased testis tumor incidence ( J:166879 )

♂ • 3.4% incidence of testicular carcinomas

respiratory system

increased lung adenocarcinoma incidence ( J:166879 )

• 6.9% incidence of adenocarcinomas in the lung

nervous system

increased glioma incidence ( J:166879 )

• optic nerve gliomas

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