Phenotypes associated with this allele

• Allele Symbol: Itgb1^tm1Ehi
• Allele Name: targeted mutation 1, Emilio Hirsch
• Allele ID: MGI:2182640
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Itgb1^tm1Ehi/Itgb1^tm1Ehi	either: (involves: 129S1/Sv * 129X1/SvJ) or (involves: 129S1/Sv * 129X1/SvJ * C57BL/6)	MGI:3703327

Genotype
MGI:3703327

hm1

• Allelic Composition: Itgb1^tm1Ehi/Itgb1^tm1Ehi
• Genetic Background: either: (involves: 129S1/Sv * 129X1/SvJ) or (involves: 129S1/Sv * 129X1/SvJ * C57BL/6)

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

Developmental defects in Itgb1^tm1Ehi/Itgb1^tm1Ehi embryos

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:76216 )

• die between E10.5 and E11.5

growth/size/body

embryonic growth retardation ( J:76216 )

decreased embryo size ( J:76216 )

• appear much smaller than wild-type at E11.5

embryo

abnormal embryo development ( J:76216 )

• when the allantois is not fused to the chorion, embryos appear abnormally oriented in the decidua

embryonic growth retardation ( J:76216 )

decreased embryo size ( J:76216 )

• appear much smaller than wild-type at E11.5

kinked neural tube ( J:76216 )

• 90% exhibit abnormally waved or kinky neural tubes at E10.5

wavy neural tube ( J:76216 )

• 90% exhibit abnormally waved or kinky neural tubes at E10.5

delayed somite formation ( J:76216 )

failure of chorioallantoic fusion ( J:76216 )

• at E10.5, 90% of embryos show failure of the allantois to fuse with the chorion

cardiovascular system

abnormal cardiac mesenchyme morphology ( J:76216 )

• aberrant mesenchyme development with a decrease in density of mesenchymal cells

abnormal heart morphology ( J:76216 )

• at E9.5, 95% of embryos display cardiac abnormalities and/or craniofacial abnormalities

• embryos exhibit a disconnection between myocardium and pericardium

pericardial effusion ( J:76216 )

• variable penetrance of pericardial effusion at E10.5, ranging from mild liquid accumulation in the pericardial cavity to severe pericardial swelling

hemorrhage ( J:76216 )

• embryos exhibit blood leakage into the yolk sac and exocoelom

nervous system

kinked neural tube ( J:76216 )

• 90% exhibit abnormally waved or kinky neural tubes at E10.5

wavy neural tube ( J:76216 )

• 90% exhibit abnormally waved or kinky neural tubes at E10.5

exencephaly ( J:76216 )

• 20% show exencephaly at E10.5

craniofacial

abnormal craniofacial morphology ( J:76216 )

• at E9.5, 95% of embryos display cardiac abnormalities and/or craniofacial abnormalities

cellular

abnormal cell cycle ( J:76216 )

• MEFs display a defective cell cycle, with a 25% increase of cells in G1, a 30% decrease of cells in S phase and a 76% decrease of cells in G2, indicating an impaired G1/S transition

increased apoptosis ( J:76216 )

• E9.5 embryos show an increase in the number of apoptotic cells in the mesenchyme and the heart

decreased cell proliferation ( J:76216 )

• E8.5 and E9.5 embryos show a 10% and 30% decrease of proliferating cells, respectively

decreased fibroblast proliferation ( J:76216 )

• MEFs display impaired proliferation and survival and reduced adhesion-mediated cell survival

homeostasis/metabolism

pericardial effusion ( J:76216 )

• variable penetrance of pericardial effusion at E10.5, ranging from mild liquid accumulation in the pericardial cavity to severe pericardial swelling