Phenotypes associated with this allele

• Allele Symbol: C2cd3^em1Brgm
• Allele Name: endonuclease-mediated mutation 1, Samantha A Brugmann
• Allele ID: MGI:6887610
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	C2cd3^em1Brgm/C2cd3^em1Brgm	involves: C57BL/6J * C57BL/6NCrl * CD-1	MGI:7356610
hm2	C2cd3^em1Brgm/C2cd3^em1Brgm	involves: C57BL/6NCrl * CD-1	MGI:6887714

Genotype
MGI:7356610

hm1

• Allelic Composition: C2cd3^em1Brgm/C2cd3^em1Brgm
• Genetic Background: involves: C57BL/6J * C57BL/6NCrl * CD-1

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

cardiovascular system

abnormal heart looping ( J:308674 )

• Background Sensitivity: incidence is increased to 56% compared to 30% in embryos without C57BL/6J in the background

pericardial edema ( J:308674 )

• Background Sensitivity: incidence is increased to 44% compared to 30% in embryos without C57BL/6J in the background

embryo

abnormal developmental patterning ( J:308674 )

• Background Sensitivity: incidence of twisted body axis is decreased to 78% compared to 90% in embryos without C57BL/6J in the background

homeostasis/metabolism

pericardial edema ( J:308674 )

• Background Sensitivity: incidence is increased to 44% compared to 30% in embryos without C57BL/6J in the background

nervous system

abnormal cranial flexure morphology ( J:308674 )

• Background Sensitivity: incidence of tight mesencephalic flexure is increased to 33% compared to 30% in embryos without C57BL/6J in the background

exencephaly ( J:308674 )

• Background Sensitivity: incidence is decreased to 67% compared to 90% in embryos without C57BL/6J in the background

Genotype
MGI:6887714

hm2

• Allelic Composition: C2cd3^em1Brgm/C2cd3^em1Brgm
• Genetic Background: involves: C57BL/6NCrl * CD-1

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:308674 )

• die at approximately E10.5

cardiovascular system

abnormal heart looping ( J:308674 )

• in 30% of embryos

pericardial edema ( J:308674 )

• in 30% of embryos

cellular

abnormal primary cilium morphology ( J:308674 )

• fail to extend primary cilia

embryo

abnormal developmental patterning ( J:308674 )

• twisted body axis in 90% of embryos

homeostasis/metabolism

pericardial edema ( J:308674 )

• in 30% of embryos

nervous system

abnormal cranial flexure morphology ( J:308674 )

• tight mesencephalic flexure in 30% of embryos

exencephaly ( J:308674 )

• in 90% of embryos