Phenotypes associated with this allele

• Allele Symbol: Tab1^tm1Geny
• Allele Name: targeted mutation 1, Gen Yamada
• Allele ID: MGI:2667182
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Tab1^tm1Geny/Tab1^tm1Geny	involves: C57BL/6 * CBA	MGI:2667183

Genotype
MGI:2667183

hm1

• Allelic Composition: Tab1^tm1Geny/Tab1^tm1Geny
• Genetic Background: involves: C57BL/6 * CBA

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

mortality/aging

lethality throughout fetal growth and development, complete penetrance ( J:80766 )

• homozygotes develop normally until midgestation but die between E15.5 and E18.5

homeostasis/metabolism

hydrops fetalis ( J:80766 )

• homozygotes appear bloated with extensive edema late in gestation

cardiovascular system

abnormal aorta morphology ( J:80766 )

• the aortic trunk is thinner than normal

abnormal aorta tunica media morphology ( J:80766 )

• the endoluminal layer is surrounded by a poorly organized and dissociated tunica media

abnormal capillary morphology ( J:80766 )

• at E16.5, elongated and burst capillaries are observed within the ventricular wall of the heart

abnormal myocardial fiber morphology ( J:80766 )

• myocardial cell differentiation is disturbed, as suggested by cardiac marker expression analysis

abnormal myocardial trabeculae morphology ( J:80766 )

• at E17.5, trabeculation of the inner ventricular wall is significantly elongated

thin myocardium ( J:80766 )

• at E16.5, an abnormally thin myocardial layer is observed

abnormal cardiovascular development ( J:80766 )

abnormal interventricular septum morphology ( J:80766 )

• at E17.5, disruption of the intraventricular septum is frequently observed

ventricular hypoplasia ( J:80766 )

• at E16.5, the observed ventricular hypoplasia is not a result of increased cell death within the ventricular wall

thin ventricular wall ( J:80766 )

• at E16.5, the ventricular wall is very thin

hemorrhage ( J:80766 )

• homozygotes display severe hemorrhage late in gestation

heart hemorrhage ( J:80766 )

• at E15.5, homozygotes display hemorrhage in areas near the cardiac outflow tract

respiratory system

abnormal lung development ( J:80766 )

• homozygotes display impaired distal lung bud epithelium development, as suggested by the reduction of Id2 expression in the growing tip of the branching epithelium

abnormal lung epithelium morphology ( J:80766 )

• at E16.5, bronchiolar epithelium morphogenesis is normal but terminal bud epithelium appears degenerated

abnormal pulmonary alveolus morphology ( J:80766 )

• at E17.5, lung alveoli are not fully expand

muscle

abnormal myocardial fiber morphology ( J:80766 )

• myocardial cell differentiation is disturbed, as suggested by cardiac marker expression analysis

abnormal myocardial trabeculae morphology ( J:80766 )

• at E17.5, trabeculation of the inner ventricular wall is significantly elongated

thin myocardium ( J:80766 )

• at E16.5, an abnormally thin myocardial layer is observed

skeleton

abnormal sternum morphology ( J:80766 )

• fusion defects of the sternum are observed in some instances

delayed bone ossification ( J:80766 )

• some skeletal bones exhibit delayed ossification

cellular

abnormal cell physiology ( J:80766 )

• in vitro, MEFs derived from homozygous mutant mice display severely reduced TAK1 kinase activities and decreased sensitivity to TGF-beta stimulation