Phenotypes associated with this allele

• Allele Symbol: Mafk^tm1Jeng
• Allele Name: targeted mutation 1, James Douglas Engel
• Allele ID: MGI:2386716
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
cx1	Mafg^tm1Jeng/Mafg^tm1Jeng Mafk^tm1Jeng/Mafk^tm1Jeng	involves: 129S1/Sv * 129X1/SvJ	MGI:3580876
cx2	Mafg^tm1Jeng/Mafg^tm1Jeng Mafk^tm1Jeng/Mafk^+	involves: 129S1/Sv * 129X1/SvJ	MGI:3580878

Genotype
MGI:3580876

cx1

• Allelic Composition: Mafg^tm1Jeng/Mafg^tm1Jeng; Mafk^tm1Jeng/Mafk^tm1Jeng
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ

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

mortality/aging

postnatal lethality, complete penetrance ( J:61142 )

• did not survive to weaning

perinatal lethality, incomplete penetrance ( J:61142 )

• homozygotes born at considerably reduced numbers

• expected numbers of homozygous embryos at E18.5

hematopoietic system

enlarged spleen ( J:61142 )

• slight splenomegaly

extramedullary hematopoiesis ( J:61142 )

• persistent fetal liver hematopoiesis

anemia ( J:61142 )

• by age 14 days

abnormal erythrocyte morphology ( J:61142 )

• often small, round and with irregular shapes

thrombocytopenia ( J:61142 )

• platelets reduced to near zero

reticulocytosis ( J:61142 )

• reticulocyte numbers increased

• irregular reticulocyte morphology

increased erythrocyte osmotic fragility ( J:61142 )

• red blood cells are less stable osmotically

behavior/neurological

limb grasping ( J:61142 )

• limb grasping behavior seen by 3-4 weeks of age

ataxia ( J:61142 )

• severe motor ataxia by 2 months of age

• intermittently spastic hind legs

growth/size/body

decreased body weight ( J:61142 )

• very small at birth

enlarged spleen ( J:61142 )

• slight splenomegaly

immune system

enlarged spleen ( J:61142 )

• slight splenomegaly

Genotype
MGI:3580878

cx2

• Allelic Composition: Mafg^tm1Jeng/Mafg^tm1Jeng; Mafk^tm1Jeng/Mafk⁺
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ

hematopoietic system

abnormal megakaryocyte differentiation ( J:61142 )

• large, mature megakaryocytes found

• failed to form proplatelets

thrombocytopenia ( J:61142 )

• platelets reduced to near zero

behavior/neurological

limb grasping ( J:81813 )

• limb grasping behavior develops by 6 weeks in about half of mice

decreased locomotor activity ( J:81813 )

• motor activity repressed by auditory stimuli

myoclonus ( J:81813 )

• intermittent but long lasting myoclonus in hind limbs of about 2/3 of mice, fully penetrant at 9 weeks of age

• occurs spontaneously but can be triggered by external stimuli such as eating or approaching table edge during free locomotion

nervous system

myoclonus ( J:81813 )

• intermittent but long lasting myoclonus in hind limbs of about 2/3 of mice, fully penetrant at 9 weeks of age

• occurs spontaneously but can be triggered by external stimuli such as eating or approaching table edge during free locomotion

abnormal neuron morphology ( J:81813 )

• neuronal nuclei in the gray matter of the spinal cord are swollen and the cytoplasm was thin

muscle

myoclonus ( J:81813 )

• intermittent but long lasting myoclonus in hind limbs of about 2/3 of mice, fully penetrant at 9 weeks of age

• occurs spontaneously but can be triggered by external stimuli such as eating or approaching table edge during free locomotion

cellular

abnormal megakaryocyte differentiation ( J:61142 )

• large, mature megakaryocytes found

• failed to form proplatelets