Phenotypes associated with this allele

• Allele Symbol: Jak2^tm1Kf
• Allele Name: targeted mutation 1, Kristen Frenzel
• Allele ID: MGI:3664597
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Jak2^tm1Kf/Jak2^tm1Kf	involves: 129S1/Sv * 129X1/SvJ	MGI:3706898
ht2	Jak2^tm1Kf/Jak2^+	involves: 129S1/Sv * 129X1/SvJ	MGI:3706899

Genotype
MGI:3706898

hm1

• Allelic Composition: Jak2^tm1Kf/Jak2^tm1Kf
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ

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

mortality/aging

embryonic lethality, complete penetrance ( J:112700 )

• homozygous embryos die in utero by or before ~12.5 dpc (days post coitum)

embryo

decreased embryo size ( J:112700 )

• homozygous embryos are smaller than wild-type or heterozygotes

growth/size/body

decreased embryo size ( J:112700 )

• homozygous embryos are smaller than wild-type or heterozygotes

hematopoietic system

abnormal erythropoiesis ( J:112700 )

• embryos lack definitive erythropoiesis, resulting in lethality

Genotype
MGI:3706899

ht2

• Allelic Composition: Jak2^tm1Kf/Jak2⁺
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ

hematopoietic system

hematopoietic system phenotype ( J:112700 )

N • hematocrit does not differ significantly from controls

N • synthesis of new red blood cells following phenylhydrazine hydrolysis is not different from controls

homeostasis/metabolism

abnormal enzyme/coenzyme activity ( J:112700 )

• in isolated vascular aortic smooth muscle cells, levels of Jak2 autophophorylation are reduced compared to wild-type cells suggesting an inability to activate Jak2