Phenotypes associated with this allele

• Allele Symbol: Jmjd6^tm1Gbf
• Allele Name: targeted mutation 1, Andreas Lengeling
• Allele ID: MGI:3580706
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Jmjd6^tm1Gbf/Jmjd6^tm1Gbf	C57BL/6-Ptdsr^tm1Gbf	MGI:3582652

Genotype
MGI:3582652

hm1

• Allelic Composition: Jmjd6^tm1Gbf/Jmjd6^tm1Gbf
• Genetic Background: C57BL/6-Ptdsr^tm1Gbf

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

Edema in Jmjd6^tm1Gbf/Jmjd6^tm1Gbf mice

mortality/aging

perinatal lethality, complete penetrance ( J:98905 )

• a low rate of embryonic lethality between E9.5 and E18.5

• of those homozygous pups surviving passed E18.5, died during delivery or within minutes after birth

prenatal lethality, incomplete penetrance ( J:98905 )

• a low rate of embryonic lethality between E9.5 and E18.5

growth/size/body

cleft secondary palate ( J:98905 )

abnormal head shape ( J:98905 )

• various head and craniofacial malformations such as abnormal head shape

fetal growth retardation ( J:98905 )

• from E13.5 onwards, all homozygous embryos were growth-retarded

• displayed multiple developmental dysmorphology

nervous system

exencephaly ( J:98905 )

• externally visible head abnormality with occasional ectopic tissue outside the skull

• extensive hyperplasia of brain tissue with herniation of brain tissue through the skull-cap or through the ventral skull

• in the most severe cases, expansion of brain tissue resulted in perturbations of cortical structures

craniofacial

cleft secondary palate ( J:98905 )

abnormal head shape ( J:98905 )

• various head and craniofacial malformations such as abnormal head shape

vision/eye

anophthalmia ( J:98905 )

• eye development was severely affected in 14.1% of homozygous embryos

• a complete unilateral or bilateral absence of the eyes with complex malformations of the optical cup, including absence of the lens and ectopic retinal-pigmented epithelium in nasal cavities

• in normal or mildly affected embryos at E16.5, retinal layers were much thinner

homeostasis/metabolism

skin edema ( J:98905 , J:102098 )

• subcutaneous edema in embryos between E12.5 and E15.5 (J:98905)

• skin edema in neonate (J:98905)

respiratory system

abnormal respiratory system morphology ( J:98905 )

• significant delay in organ and tissue differentiation in lung at E16.5 however, almost normally developed lungs at birth

renal/urinary system

abnormal kidney development ( J:98905 )

• significant delay in organ and tissue differentiation in kidney at E16.5

digestive/alimentary system

cleft secondary palate ( J:98905 )

abnormal intestine morphology ( J:98905 )

• significant delay in organ and tissue differentiation in intestine at E16.5

cellular

cellular phenotype ( J:98905 )

N • a comprehensive investigation of apoptoic cell clearance in vivo and in vitro demonstrated that engulfment of apoptotic cells was normal

cardiovascular system

abnormal pulmonary artery morphology ( J:102098 )

• at E15, determined by MRI

myocardial trabeculae hypoplasia ( J:102098 )

• embryos at 16.5 dpc show increased myocardial trabeculation

thin myocardium compact layer ( J:102098 )

• embryos at 16.5 dpc show a thinning of the myocardial wall (compact zone)

double outlet right ventricle ( J:102098 )

• at E15, determined by MRI

abnormal heart ventricle morphology ( J:102098 )

ventricular septal defect ( J:102098 )

• at E15, determined by MRI

immune system

small thymus ( J:102098 )

• volume of thymus significantly reduced, 58% of control values

• determined by MRI

• seen at E15

thymus hypoplasia ( J:102098 )

• determined by MRI

• seen at E15

abnormal macrophage activation involved in immune response ( J:98905 )

• mutant macrophage were impaired in pro- and anti-inflammatory cytokine signaling after stimulation with apoptotic cells or with lipopolysaccharide

hematopoietic system

small thymus ( J:102098 )

• volume of thymus significantly reduced, 58% of control values

• determined by MRI

• seen at E15

thymus hypoplasia ( J:102098 )

• determined by MRI

• seen at E15

abnormal erythropoiesis ( J:98905 )

• severely blocked erythropoietic differentiation at an early erythroblast stage in the liver

abnormal macrophage activation involved in immune response ( J:98905 )

• mutant macrophage were impaired in pro- and anti-inflammatory cytokine signaling after stimulation with apoptotic cells or with lipopolysaccharide

muscle

myocardial trabeculae hypoplasia ( J:102098 )

• embryos at 16.5 dpc show increased myocardial trabeculation

thin myocardium compact layer ( J:102098 )

• embryos at 16.5 dpc show a thinning of the myocardial wall (compact zone)

integument

skin edema ( J:98905 , J:102098 )

• subcutaneous edema in embryos between E12.5 and E15.5 (J:98905)

• skin edema in neonate (J:98905)

pallor ( J:98905 )

• had a pale appearance

endocrine/exocrine glands

small thymus ( J:102098 )

• volume of thymus significantly reduced, 58% of control values

• determined by MRI

• seen at E15

thymus hypoplasia ( J:102098 )

• determined by MRI

• seen at E15