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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Hif1atm1Rsjo
targeted mutation 1, Randall S Johnson
MGI:2385358
Summary 5 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Hif1atm1Rsjo/Hif1atm1Rsjo involves: 129S1/Sv * 129X1/SvJ MGI:3621463
ht2
Hif1atm1Rsjo/Hif1a+ involves: 129S1/Sv * 129X1/SvJ MGI:4418485
cn3
Hif1atm1Rsjo/Hif1atm3Rsjo
Tg(Col2a1-cre)1Rsjo/?
involves: 129S1/Sv * 129X1/SvJ * FVB/N MGI:3621467
cx4
Hif1atm1Rsjo/Hif1atm1Rsjo
Hif1antm1.2Rsjo/Hif1antm1.2Rsjo
Vhltm1Jae/Vhltm1Jae
involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ MGI:4459906
cx5
Hif1atm1Rsjo/Hif1atm1Rsjo
Hif1antm1.2Rsjo/Hif1antm1.2Rsjo
involves: 129S1/Sv * 129X1/SvJ MGI:4459911


Genotype
MGI:3621463
hm1
Allelic
Composition
Hif1atm1Rsjo/Hif1atm1Rsjo
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hif1atm1Rsjo mutation (0 available); any Hif1a mutation (48 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cardiovascular system
• the dorsal aorta is present but reduced in size
• at E9.5 few capillaries and no vascular network are present in the neural folds and the intersomitic vasculature is interrupted
• at E9.5, complete lack of organized branching although fully formed vessels and red blood cells are present

homeostasis/metabolism
• striking increase in hypoxia especially in the neural ectoderm and somites

cellular
• increase in the interior of the embryo

embryo
• at E9.5, complete lack of organized branching although fully formed vessels and red blood cells are present
• increase in the interior of the embryo
• starting at E8.0 and becoming more severe by E9.5
• at E8.0. reduced and somewhat convoluted neural folds are seen
• at E8.5 and E9.5, the neural folds are abnormal and not completely closed
• at E9.5 few capillaries and no vascular network are present in the neural folds
• at E8.5, fewer somites are present

growth/size/body
• starting at E8.0 and becoming more severe by E9.5




Genotype
MGI:4418485
ht2
Allelic
Composition
Hif1atm1Rsjo/Hif1a+
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hif1atm1Rsjo mutation (0 available); any Hif1a mutation (48 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• under hypoxic conditions compared with similarly treated wild-type mice

cellular
• under hypoxic conditions compared with similarly treated wild-type mice




Genotype
MGI:3621467
cn3
Allelic
Composition
Hif1atm1Rsjo/Hif1atm3Rsjo
Tg(Col2a1-cre)1Rsjo/?
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hif1atm1Rsjo mutation (0 available); any Hif1a mutation (48 available)
Hif1atm3Rsjo mutation (3 available); any Hif1a mutation (48 available)
Tg(Col2a1-cre)1Rsjo mutation (0 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• die within a few hours of birth

respiratory system
• chondrocytes are abnormal and disorganized and the tracheal ring is malformed
• fail to fully inflate the lungs

skeleton
• chondrocytes are abnormal and disorganized and the tracheal ring is malformed
• the border between the chondrocytic hypertrophic zone and the primary spongiosa is irregular and disorganized
• however, cells along the proximal surface of the bone appear normal
• long bone growth plates are misshapen and wider with disrupted organization of the chondrocytes
• long bone growth plates are misshapen and wider with disrupted organization of the chondrocytes
• shorter long bones
• no definable cellular structures are seen in the center of the sternebrae or at the at the chondrosternal junctions
• collagen type II and type X expression is absent from the center of the sternum and at the chondrosternal junctions at P0
• no definable cellular structures are seen at the chondrosternal junctions
• collagen type II and type X expression are absent from the chondrosternal junctions at P0
• rib cage is wider and misshapen
• massive cell death is seen at the center of cartilagenous elements and a subtle delay in chondrocyte differentiation is seen in the periphery
• in the long bones, an area in the center of the proliferative columnar layer is hypocellular or contains abnormal cells with pyknotic nuclei
• in the long bones, an area in the center of the upper hypertrophic zone is hypocellular or contains abnormal cells with pyknotic nuclei

cardiovascular system
• ectopic angiogenesis seen in necrotic areas of long bone growth plates

embryo

limbs/digits/tail
• short, deformed limbs

growth/size/body




Genotype
MGI:4459906
cx4
Allelic
Composition
Hif1atm1Rsjo/Hif1atm1Rsjo
Hif1antm1.2Rsjo/Hif1antm1.2Rsjo
Vhltm1Jae/Vhltm1Jae
Genetic
Background
involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hif1antm1.2Rsjo mutation (0 available); any Hif1an mutation (15 available)
Hif1atm1Rsjo mutation (0 available); any Hif1a mutation (48 available)
Vhltm1Jae mutation (2 available); any Vhl mutation (16 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cellular
N
• proliferation of MEFs after 48 hours of culturing in normoxia or hypoxia conditions is normal




Genotype
MGI:4459911
cx5
Allelic
Composition
Hif1atm1Rsjo/Hif1atm1Rsjo
Hif1antm1.2Rsjo/Hif1antm1.2Rsjo
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hif1antm1.2Rsjo mutation (0 available); any Hif1an mutation (15 available)
Hif1atm1Rsjo mutation (0 available); any Hif1a mutation (48 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cellular
• of MEFs after 48 hours of culturing in normoxia or hypoxia conditions





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last database update
04/23/2024
MGI 6.23
The Jackson Laboratory