Phenotypes associated with this allele

• Allele Symbol: Jarid2^jumonji
• Allele Name: jumonji
• Allele ID: MGI:1856923
• Summary: 4 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Jarid2^jumonji/Jarid2^jumonji	C.129P2-Jarid2^jumonji	MGI:3710764
hm2	Jarid2^jumonji/Jarid2^jumonji	C3.129P2-Jarid2^jumonji	MGI:3710940
hm3	Jarid2^jumonji/Jarid2^jumonji	either: B6.129P2-Jarid2^jumonji or D2.129P2-Jarid2^jumonji	MGI:3710769
hm4	Jarid2^jumonji/Jarid2^jumonji	involves: 129P2/OlaHsd * BALB/cA	MGI:3710756

Genotype
MGI:3710764

hm1

• Allelic Composition: Jarid2^jumonji/Jarid2^jumonji
• Genetic Background: C.129P2-Jarid2^jumonji

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

mortality/aging

lethality throughout fetal growth and development, complete penetrance ( J:42772 )

• Background Sensitivity: most homozygotes die around E15.5 on the congenic background compared to death between E10.5 and E15.5 on the mixed 129P2/OlaHsd and BALB/cA background

growth/size/body

fetal growth retardation ( J:42772 )

• about half of homozygotes are retarded in growth at E14.5

homeostasis/metabolism

edema ( J:42772 )

cardiovascular system

dilated liver sinusoidal space ( J:42772 )

• seen at E13.5

distended pericardium ( J:42772 )

• enlargement of the pericardial cavity

hemorrhage ( J:42772 )

• excessive hemorrhaging in the back at E13.5

liver/biliary system

abnormal liver morphology ( J:42772 )

• livers show a loosened structure with enlarged sinusoidal spaces in the peripheral region at E13.5

• livers show an increase in the population of differentiated megakaryocytes after E12.5 around the cell death region

dilated liver sinusoidal space ( J:42772 )

• seen at E13.5

decreased hepatocyte number ( J:85152 )

• numbers of hepatocytes are reduced in fetal liver

small liver ( J:85152 )

• liver is small at E14.5 but not at E11.5

liver hypoplasia ( J:42772 )

• decrease in the total number of liver cells at E11.5

hepatic necrosis ( J:42772 )

• excessive cell death is seen in the peripheral region of livers, in both parenchymal cells and cells of erythroid lineage, at E13.5

abnormal liver physiology ( J:85152 )

• maturation of hepatocytes in culture is impaired as evidenced by the expression of liver enzymes such as tyrosine amino transferase

hematopoietic system

abnormal thymus cell ratio ( J:42772 )

• the number of hematopoietic cells in the thymus is reduced

thymus hypoplasia ( J:42772 )

abnormal definitive hematopoiesis ( J:51843 )

• definitive, but not primitive, hematopoiesis is impaired

• decrease in the numbers of erythroid and myeloid progenitors and of differentiated erythroid, myeloid, and immature hematopoietic cells in the fetal liver

• decrease in the numbers of multiple hematopoietic progenitors including colony-forming unit-spleen in the fetal liver

abnormal erythropoiesis ( J:51843 )

• erythropoiesis is impaired in the fetal liver

anemia ( J:51843 )

abnormal megakaryocyte progenitor cell morphology ( J:68443 )

• the population of megakaryocyte progenitors in the fetal liver, yolk sac, and peripheral blood is increased

• a fraction of megakaryocyte progenitors derived from the fetal liver form larger colonies in vitro compared to controls, caused by delayed growth arrest in the progeny

decreased fetal derived definitive erythrocyte cell number ( J:51843 )

• in the peripheral blood, the number of fetal liver-derived definitive erythrocytes, but not yolk sac-derived primitive erythrocytes, are reduced at E14.5

spleen hypoplasia ( J:42772 )

abnormal splenic cell ratio ( J:42772 )

• the number of hematopoietic cells in the spleen is reduced

immune system

abnormal thymus cell ratio ( J:42772 )

• the number of hematopoietic cells in the thymus is reduced

thymus hypoplasia ( J:42772 )

spleen hypoplasia ( J:42772 )

abnormal splenic cell ratio ( J:42772 )

• the number of hematopoietic cells in the spleen is reduced

nervous system

nervous system phenotype ( J:42772 )

N • Background Sensitivity: unlike on a mixed 129P2/OlaHsd and BALB/cA background where neural tube defects are observed, homozygotes on a congenic BALB/cA background show no neural tube defects

endocrine/exocrine glands

abnormal thymus cell ratio ( J:42772 )

• the number of hematopoietic cells in the thymus is reduced

thymus hypoplasia ( J:42772 )

Genotype
MGI:3710940

hm2

• Allelic Composition: Jarid2^jumonji/Jarid2^jumonji
• Genetic Background: C3.129P2-Jarid2^jumonji

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:57069 )

• Background Sensitivity: almost half of homozygotes die at E11.5 and none live after E12.5, indicating earlier lethality than on a BALB/cA background (around E15.5)

growth/size/body

decreased embryo size ( J:57069 )

• embryos are smaller after E10.5

embryo

decreased embryo size ( J:57069 )

• embryos are smaller after E10.5

abnormal neural plate morphology ( J:57069 )

• the neural plate exhibits a prominent flexure

• all homozygotes have abnormal grooves on the neural plate at E7.5-8.5 that form at the future midbrain-hindbrain boundary

abnormal neural tube morphology ( J:57069 )

• Background Sensitivity: all homozygotes on the C3H/He background have neural tube defects around the midbrain, unlike mutants on a C57BL/6J, DBA/2J, or BALB/cA congenic background

delayed neural tube closure ( J:57069 )

• mutants display delayed closure of the neural tube

incomplete rostral neuropore closure ( J:57069 )

• mutants show a failure to fuse the neural tube at the posterior site of the forebrain

cardiovascular system

abnormal myocardial fiber morphology ( J:57069 )

• many myocytes show abnormal vacuoles in the cytoplasm

abnormal myocardial trabeculae morphology ( J:57069 )

• myocytes in the ventricular trabeculae show hyperplasia with cells filling the ventricles

• many spaces are apparent between the trabecular myocytes and very few cells with myofilaments are observed; myofilaments are short and show a disordered orientation

abnormal heart development ( J:57069 )

• at the 8-somite stage, the length of the bulbus cordis (the future outflow tract and right ventricle) appears short and at the 11-somite stage, it appears swollen

• the boundary between the bulbus cordis and the primitive ventricle is shifted rostrally

abnormal heart left ventricle morphology ( J:57069 )

• the left ventricle is occupied mostly by cardiac myocytes in the trabeculae

nervous system

abnormal neural plate morphology ( J:57069 )

• the neural plate exhibits a prominent flexure

• all homozygotes have abnormal grooves on the neural plate at E7.5-8.5 that form at the future midbrain-hindbrain boundary

abnormal neural tube morphology ( J:57069 )

• Background Sensitivity: all homozygotes on the C3H/He background have neural tube defects around the midbrain, unlike mutants on a C57BL/6J, DBA/2J, or BALB/cA congenic background

delayed neural tube closure ( J:57069 )

• mutants display delayed closure of the neural tube

incomplete rostral neuropore closure ( J:57069 )

• mutants show a failure to fuse the neural tube at the posterior site of the forebrain

muscle

abnormal myocardial fiber morphology ( J:57069 )

• many myocytes show abnormal vacuoles in the cytoplasm

abnormal myocardial trabeculae morphology ( J:57069 )

• myocytes in the ventricular trabeculae show hyperplasia with cells filling the ventricles

• many spaces are apparent between the trabecular myocytes and very few cells with myofilaments are observed; myofilaments are short and show a disordered orientation

Genotype
MGI:3710769

hm3

• Allelic Composition: Jarid2^jumonji/Jarid2^jumonji
• Genetic Background: either: B6.129P2-Jarid2^jumonji or D2.129P2-Jarid2^jumonji

mortality/aging

lethality throughout fetal growth and development, complete penetrance ( J:42772 )

• Background Sensitivity: most homozygotes die around E15.5 on either congenic background compared to death between E10.5 and E15.5 on the mixed 129P2/OlaHsd and BALB/cA background

hematopoietic system

thymus hypoplasia ( J:42772 )

• seen at E13.5-15.5

spleen hypoplasia ( J:42772 )

• seen at E13.5-15.5

homeostasis/metabolism

edema ( J:42772 )

liver/biliary system

liver hypoplasia ( J:42772 )

• seen at E13.5-15.5

immune system

thymus hypoplasia ( J:42772 )

• seen at E13.5-15.5

spleen hypoplasia ( J:42772 )

• seen at E13.5-15.5

nervous system

nervous system phenotype ( J:42772 )

N • Background Sensitivity: no neural tube defects are seen like those on a mixed 129P2/OlaHsd and BALB/cA background

endocrine/exocrine glands

thymus hypoplasia ( J:42772 )

• seen at E13.5-15.5

Genotype
MGI:3710756

hm4

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

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