Phenotypes associated with this allele

• Allele Symbol: Hif1a^tm1Pec
• Allele Name: targeted mutation 1, Peter Carmeliet
• Allele ID: MGI:2179429
• Summary: 4 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Hif1a^tm1Pec/Hif1a^tm1Pec	involves: 129S6/SvEvTac	MGI:3618336
hm2	Hif1a^tm1Pec/Hif1a^tm1Pec	involves: 129X1/SvJ * Swiss	MGI:3615378
cx3	Egln2^tm1Pec/Egln2^tm1Pec Hif1a^tm1Pec/Hif1a^+	involves: 129S/SvEv * Swiss	MGI:3777337
cx4	Egln3^tm1Pjr/Egln3^tm1Pjr Hif1a^tm1Pec/Hif1a^+	involves: 129S/SvEv * Swiss	MGI:3798395

Genotype
MGI:3618336

hm1

• Allelic Composition: Hif1a^tm1Pec/Hif1a^tm1Pec
• Genetic Background: involves: 129S6/SvEvTac

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

embryo

embryonic growth arrest ( J:105812 )

• E9.5 embryos display developmental arrest and morphological phenotypes identical to those previously reported for other genetic backgrounds

Genotype
MGI:3615378

hm2

• Allelic Composition: Hif1a^tm1Pec/Hif1a^tm1Pec
• Genetic Background: involves: 129X1/SvJ * Swiss

mortality/aging

embryonic lethality during organogenesis, incomplete penetrance ( J:102537 )

• embryos with cardia bifida die around E9.5-E10

growth/size/body

embryonic growth retardation ( J:102537 )

• growth retarded after E8.5

• embryos with heart looping defects are less retarded than embryos with cardia bifida

cardiovascular system

abnormal angiogenesis ( J:102537 )

• embryonic angiogenesis is impaired, however differentiation of angioblasts to endothelial cells and their subsequent assembly into a primary vascular labyrinth in the yolk sac and embryo proper at E8.5 occurs, indicating that vasculogenesis occurs

abnormal dorsal aorta morphology ( J:102537 )

• distal dorsal aorta is regressed in homozygotes but not wild-type

abnormal vascular regression ( J:102537 )

• vitelline artery and distal dorsal aorta are regressed in homozygotes but not wild-type

abnormal myocardial trabeculae morphology ( J:102537 )

• myocardial trabeculation is significantly retarded in half or absent in the other half of E9.5 embryos, however cardiomyocytes differentiate normally in E9.5 embryos

absent myocardial trabeculae ( J:102537 )

• myocardial trabeculation is absent in half of E9.5 embryos

abnormal heart development ( J:102537 )

• cardiac development at E9.5 is severely abnormal

abnormal heart looping ( J:102537 )

• in embryos that do form a single heart tube, primitive hearts fail to loop at all or looping occurs abnormally

cardia bifida ( J:102537 )

• about 32% exhibit cardia bifida as the cardiac crescent fails to form and results in the development of two separate myocardial tubes, each lined by endocardial cells

abnormal heart ventricle morphology ( J:102537 )

• defective ventricle formation

embryo

abnormal neural crest cell migration ( J:102537 )

• neural crest cells are abnormally distributed as early as E8.75, indicating impaired migration

abnormal pharyngeal arch morphology ( J:102537 )

• defective formation of pharyngeal arches

absent second pharyngeal arch ( J:102537 )

• the second pharyngeal arch is either small or absent

small second pharyngeal arch ( J:102537 )

• the second pharyngeal arch is either small or absent

absent third pharyngeal arch ( J:102537 )

• absent

embryonic growth retardation ( J:102537 )

• growth retarded after E8.5

• embryos with heart looping defects are less retarded than embryos with cardia bifida

open neural tube ( J:102537 )

• head folds fail to close at E9.5

abnormal vitelline vascular remodeling ( J:102537 )

• remodeling of the immature capillary plexus into a mature vascular bed is disturbed

nervous system

open neural tube ( J:102537 )

• head folds fail to close at E9.5

craniofacial

abnormal pharyngeal arch morphology ( J:102537 )

• defective formation of pharyngeal arches

absent second pharyngeal arch ( J:102537 )

• the second pharyngeal arch is either small or absent

small second pharyngeal arch ( J:102537 )

• the second pharyngeal arch is either small or absent

absent third pharyngeal arch ( J:102537 )

• absent

muscle

abnormal myocardial trabeculae morphology ( J:102537 )

• myocardial trabeculation is significantly retarded in half or absent in the other half of E9.5 embryos, however cardiomyocytes differentiate normally in E9.5 embryos

absent myocardial trabeculae ( J:102537 )

• myocardial trabeculation is absent in half of E9.5 embryos

homeostasis/metabolism

abnormal metabolism ( J:102537 )

• E8.5 embryos cannot survive for more than 6-10 hours in normoxic, normoglycemic culture conditions (wildtype survive for at least 24 hours)

• hyperoxic culture conditions partially rescue cardiac development and prolong survival or homozygous embryos to E9.25-9.5, but not neural crest development and vascular remodeling

cellular

abnormal vascular regression ( J:102537 )

• vitelline artery and distal dorsal aorta are regressed in homozygotes but not wild-type

abnormal neural crest cell migration ( J:102537 )

• neural crest cells are abnormally distributed as early as E8.75, indicating impaired migration

Genotype
MGI:3777337

cx3

• Allelic Composition: Egln2^tm1Pec/Egln2^tm1Pec; Hif1a^tm1Pec/Hif1a⁺
• Genetic Background: involves: 129S/SvEv * Swiss

muscle

muscle phenotype ( J:132630 )

N • double mutants show ischemic muscle damage that is intermediate to Egln2/Epas1 double mutants and Egln2-null mice, so protection is partially lost in these animals

Genotype
MGI:3798395

cx4

• Allelic Composition: Egln3^tm1Pjr/Egln3^tm1Pjr; Hif1a^tm1Pec/Hif1a⁺
• Genetic Background: involves: 129S/SvEv * Swiss

nervous system

abnormal superior cervical ganglion morphology ( J:136034 )

• the number of neurons is similar to that in mice homozygous for Egln3^tm1Pjr alone

abnormal neuron physiology ( J:136034 )

• the nerve growth factor dose-response survival curve of superior cervical ganglia neurons is not significantly different from that of neurons homozygous for Egln3^tm1Pjr alone