Phenotypes associated with this allele

• Allele Symbol: Chd1^{tm1b(KOMP)Rsan}
• Allele Name: targeted mutation 1b, Miguel Ramalho-Santos
• Allele ID: MGI:5637386
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Chd1^tm1b(KOMP)Rsan/Chd1^tm1b(KOMP)Rsan	involves: 129P2/OlaHsd * C57BL/6J	MGI:5708146

Genotype
MGI:5708146

hm1

• Allelic Composition: Chd1^{tm1b(KOMP)Rsan}/Chd1^{tm1b(KOMP)Rsan}
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

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

mortality/aging

embryonic lethality, complete penetrance ( J:217689 )

• no homozygous pups recovered

• homozygotes are very small at E9.5 and undergoing resorption

• blastocysts are morphologically normal at E3.5

embryo

increased embryonic epiblast cell apoptosis ( J:217689 )

• apoptotic cells at E5.5 unlike controls

abnormal embryo development ( J:217689 )

• embryo stem cells have a self renewal deficit

• reduced transcriptional output of embryo stem cells

• decreased ES cell nucleolar size and less circular shape

abnormal developmental patterning ( J:217689 )

abnormal mesoderm development ( J:217689 )

• lack of expression of the nascent mesoderm markers brachyury (T) and Wnt3 at the posterior end of the embryo

failure to gastrulate ( J:217689 )

• fail to undergo gastrulation

abnormal rostral-caudal axis patterning ( J:217689 )

• embryo development is arrested between E5.5 and E6.5 prior to anterior-posterior patterning

decreased embryo size ( J:217689 )

• decreased embryo size at E6.5

small embryonic epiblast ( J:217689 )

• small epiblast at E5.5 due to an increase in apoptotic cell death and a delay in progression through mitosis

absent extraembryonic ectoderm ( J:217689 )

• failure to express markers of the extra-embryonic ectoderm at E6.5

absent anterior visceral endoderm ( J:217689 )

• failure to express the AVE protein marker Lefty1

growth/size/body

decreased embryo size ( J:217689 )

• decreased embryo size at E6.5

cellular

abnormal cell cycle ( J:217689 )

• number of CENP-A foci detected per epiblast cell is significantly reduced at E5.5

increased embryonic epiblast cell apoptosis ( J:217689 )

• apoptotic cells at E5.5 unlike controls