Phenotypes associated with this allele

• Allele Symbol: Smarcb1^tm1Mya
• Allele Name: targeted mutation 1, Moshe Yaniv
• Allele ID: MGI:2387974
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Smarcb1^tm1Mya/Smarcb1^tm1Mya	involves: 129S2/SvPas * C57BL/6	MGI:3035910
ht2	Smarcb1^tm1Mya/Smarcb1^+	involves: 129S2/SvPas * C57BL/6	MGI:3035912
cn3	Smarcb1^tm1Mya/Smarcb1^tm2Mya Tg(Alb1-cre)7Gsc/0	involves: 129S2/SvPas * FVB/N	MGI:3618628

Genotype
MGI:3035910

hm1

• Allelic Composition: Smarcb1^tm1Mya/Smarcb1^tm1Mya
• Genetic Background: involves: 129S2/SvPas * C57BL/6

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

mortality/aging

embryonic lethality between implantation and somite formation, complete penetrance ( J:68501 )

• embryos die between E3.5 and E6.5

embryo

abnormal inner cell mass apoptosis ( J:68501 )

• the ICM stopped growing after 1 day in cultured homozygous embryos and become apoptotic thereafter

increased trophectoderm apoptosis ( J:68501 )

• the trophectoderm did not spread in cultured homozygous embryos and these cells become apoptotic

failure of blastocyst to hatch from the zona pellucida ( J:68501 )

• one third of blastocysts do not hatch from the zona pellucida

reproductive system

failure of embryo implantation ( J:68501 )

♀ • one third of blastocysts do not implant (attach) in vitro

cellular

abnormal inner cell mass apoptosis ( J:68501 )

• the ICM stopped growing after 1 day in cultured homozygous embryos and become apoptotic thereafter

increased trophectoderm apoptosis ( J:68501 )

• the trophectoderm did not spread in cultured homozygous embryos and these cells become apoptotic

Genotype
MGI:3035912

ht2

• Allelic Composition: Smarcb1^tm1Mya/Smarcb1⁺
• Genetic Background: involves: 129S2/SvPas * C57BL/6

neoplasm

increased sarcoma incidence ( J:68501 )

• 32% of heterozygous mice developed tumors by the age of 15 months; primarily these are located in intracranial and paravertebral sites; the majority of these tumors were poorly differentiated sarcomas with variable rhabdoid features

Genotype
MGI:3618628

cn3

• Allelic Composition: Smarcb1^tm1Mya/Smarcb1^tm2Mya; Tg(Alb1-cre)7Gsc/0
• Genetic Background: involves: 129S2/SvPas * FVB/N

mortality/aging

neonatal lethality, complete penetrance ( J:103919 )

• mutants die within 12 hours of birth

homeostasis/metabolism

hypoglycemia ( J:103919 )

• blood glucose is less than 10 mg/dl shortly after birth compared to 58 mg/dl in controls; however mutants are able to feed as milk is found in the digestive tract

impaired gluconeogenesis ( J:103919 )

• total glucose production in the liver is reduced about 3-fold with gluconeogenesis reduced about 2-fold

decreased glycogen catabolism rate ( J:103919 )

• total glucose production in the liver is reduced about 3-fold with glycogenolysis reduced about 3-fold

decreased liver glycogen level ( J:103919 )

• at E17.5, E18.5, and P0, glycogen levels in the liver are severely reduced

liver/biliary system

increased hepatocyte proliferation ( J:103919 )

• proliferation in parenchymal cells is increased 1.6-fold and 4- to 5-fold at E17.5 and E18.5, respectively and a 40% increase in parenchymal cells is seen

decreased liver glycogen level ( J:103919 )

• at E17.5, E18.5, and P0, glycogen levels in the liver are severely reduced

abnormal hepatocyte morphology ( J:103919 )

• the cytoplasm contains fewer organelles and mitochondria suggesting a defect in terminal hepatocyte differentiation

dissociated hepatocytes ( J:103919 )

• intermembrane spaces are enlarged and cell-cell junctions are disrupted

cellular

increased hepatocyte proliferation ( J:103919 )

• proliferation in parenchymal cells is increased 1.6-fold and 4- to 5-fold at E17.5 and E18.5, respectively and a 40% increase in parenchymal cells is seen