Phenotypes Associated with This Genotype

Genotype
MGI:3710756

• Allelic Composition: Jarid2^jumonji/Jarid2^jumonji
• Genetic Background: involves: 129P2/OlaHsd * BALB/cA

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

mortality/aging

lethality throughout fetal growth and development, incomplete penetrance ( J:25641 )

• almost all mutants die by E15.5

embryonic lethality during organogenesis, incomplete penetrance ( J:25641 )

• mutants begin to die around E10.5 and almost all die by E15.5

• Background Sensitivity: lethality is observed sooner on the mixed background than on either BALB/cA, C57BL/6J or DBA/2J backgrounds where lethality occurs at E15.5

nervous system

abnormal nervous system development ( J:25641 )

• Background Sensitivity: mutants on the mixed 129P2/OlaHsd and BALB/cA background exhibit neural fold and neural tube defects that are not observed on C57BL/6J, DBA/2J, or BALB/cA congenic backgrounds

abnormal neural tube closure ( J:25641 )

• some embryos show failure of fusion at the posterior site of the forebrain

delayed neural tube closure ( J:25641 )

• some mutants show delayed neural closure as well as failure of fusion at the posterior site of the forebrain

homeostasis/metabolism

edema ( J:25641 )

• severe edema in the large area of the back is seen in all E14.5 mutants

embryo

abnormal neural fold formation ( J:25641 )

• 38.5% of embryos develop ectopic grooves and flexure of the neural plate in the region just anterior to the midbrain-hindbrain boundary on the neural plate at E8-8.5

• the abnormal grooves form a cross with the normal neural groove, leading to the name jumonji, meaning cruciform in Japanese

abnormal neural tube closure ( J:25641 )

• some embryos show failure of fusion at the posterior site of the forebrain

delayed neural tube closure ( J:25641 )

• some mutants show delayed neural closure as well as failure of fusion at the posterior site of the forebrain