Phenotypes associated with this allele

• Allele Symbol: Ehbp1^em1(IMPC)J
• Allele Name: endonuclease-mediated mutation 1, Jackson
• Allele ID: MGI:6342439
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Ehbp1^em1(IMPC)J/Ehbp1^em1(IMPC)J	C57BL/6NJ-Ehbp1^em1(IMPC)J/Mmjax	MGI:6492813

Genotype
MGI:6492813

hm1

• Allelic Composition: Ehbp1^em1(IMPC)J/Ehbp1^em1(IMPC)J
• Genetic Background: C57BL/6NJ-Ehbp1^em1(IMPC)J/Mmjax

Data Sources

IMPC Data for Ehbp1

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

Ehbp1^em1(IMPC)J/Ehbp1^em1(IMPC)J embryos are often smaller, are incompletely turned, have abnormal heads, and most have caudal neural tube kinks, abnormally shaped hearts, branchial arch defects, and misshapen tail tip. Some have incomplete cranial neural tube closure and pale yolk sacs.

cardiovascular system

abnormal heart shape ( J:374598 )

• by E9.5, most homozygous embryos exhibit abnormally shaped hearts

craniofacial

abnormal pharyngeal arch morphology ( J:374598 )

• by E9.5, most homozygous embryos exhibit branchial arch defects

abnormal head shape ( J:374598 )

• by E9.5 almost all homozygous embryos exhibit abnormally shaped heads

embryo

abnormal embryo turning ( J:211773 )

♀

IMPC - JAX

incomplete embryo turning ( J:374598 )

• by E9.5 almost all homozygous embryos are incompletely turned

abnormal embryo morphology ( J:374598 )

• at E9.5, the entire embryo is contorted by an unturned tail

• however, all three germ layers are present at E8.5 and germ layer patterning is normal at E9.5

abnormal pharyngeal arch morphology ( J:374598 )

• by E9.5, most homozygous embryos exhibit branchial arch defects

decreased embryo size ( J:374598 )

• at E8.5, homozygous embryos are sometimes smaller than control littermates

incomplete rostral neuropore closure ( J:374598 )

• by E9.5, a minority of homozygous embryos exhibit incomplete closure of the cranial neural tube

kinked neural tube ( J:374598 )

• by E9.5, most homozygous embryos exhibit caudal neural tube kinks

abnormal trophoblast layer morphology ( J:374598 )

• at E9.5, the Tfeb+ labyrinth trophoblast layer is slightly reduced

pale yolk sac ( J:374598 )

• at E9.5, some homozygous embryos have pale yolk sacs; by E10.5, all have pale yolk sacs

abnormal placenta development ( J:374598 )

• at E9.5, Gcm1+ chorioallantoic branching is slightly reduced

• however, overall placenta development is largely normal

growth/size/body

abnormal head shape ( J:374598 )

• by E9.5 almost all homozygous embryos exhibit abnormally shaped heads

decreased embryo size ( J:374598 )

• at E8.5, homozygous embryos are sometimes smaller than control littermates

limbs/digits/tail

abnormal tail position or orientation ( J:374598 )

• at E9.5, the entire embryo is contorted by an unturned tail

abnormal tail tip morphology ( J:374598 )

• by E9.5, most homozygous embryos show a misshapen tail tip

mortality/aging

embryonic lethality prior to tooth bud stage ( J:211773 )

IMPC - JAX

preweaning lethality, complete penetrance ( J:211773 )

IMPC - JAX

embryonic lethality during organogenesis, complete penetrance ( J:374598 )

• homozygous embryos are present in expected Mendelian ratios at E8.5 and E9.5 but absent at E12.5; all homozygous embryos recovered at E10.5 are dying

nervous system

incomplete rostral neuropore closure ( J:374598 )

• by E9.5, a minority of homozygous embryos exhibit incomplete closure of the cranial neural tube

kinked neural tube ( J:374598 )

• by E9.5, most homozygous embryos exhibit caudal neural tube kinks

abnormal midbrain morphology ( J:374598 )

• by E9.5 almost all homozygous embryos exhibit an abnormal midbrain

abnormal forebrain morphology ( J:374598 )

• by E9.5 almost all homozygous embryos exhibit an abnormal forebrain