Phenotypes associated with this allele

• Allele Symbol: Hif1a^tm1Rsjo
• Allele Name: targeted mutation 1, Randall S Johnson
• Allele ID: MGI:2385358
• Summary: 5 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Hif1a^tm1Rsjo/Hif1a^tm1Rsjo	involves: 129S1/Sv * 129X1/SvJ	MGI:3621463
ht2	Hif1a^tm1Rsjo/Hif1a^+	involves: 129S1/Sv * 129X1/SvJ	MGI:4418485
cn3	Hif1a^tm1Rsjo/Hif1a^tm3Rsjo Tg(Col2a1-cre)1Rsjo/?	involves: 129S1/Sv * 129X1/SvJ * FVB/N	MGI:3621467
cx4	Hif1a^tm1Rsjo/Hif1a^tm1Rsjo Hif1an^tm1.2Rsjo/Hif1an^tm1.2Rsjo Vhl^tm1Jae/Vhl^tm1Jae	involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ	MGI:4459906
cx5	Hif1a^tm1Rsjo/Hif1a^tm1Rsjo Hif1an^tm1.2Rsjo/Hif1an^tm1.2Rsjo	involves: 129S1/Sv * 129X1/SvJ	MGI:4459911

Genotype
MGI:3621463

hm1

• Allelic Composition: Hif1a^tm1Rsjo/Hif1a^tm1Rsjo
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ

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

cardiovascular system

abnormal dorsal aorta morphology ( J:48084 )

• the dorsal aorta is present but reduced in size

decreased angiogenesis ( J:48084 )

• at E9.5 few capillaries and no vascular network are present in the neural folds and the intersomitic vasculature is interrupted

disorganized yolk sac vascular plexus ( J:48084 )

• at E9.5, complete lack of organized branching although fully formed vessels and red blood cells are present

homeostasis/metabolism

hypoxia ( J:48084 )

• striking increase in hypoxia especially in the neural ectoderm and somites

cellular

increased embryonic tissue cell apoptosis ( J:48084 )

• increase in the interior of the embryo

embryo

disorganized yolk sac vascular plexus ( J:48084 )

• at E9.5, complete lack of organized branching although fully formed vessels and red blood cells are present

increased embryonic tissue cell apoptosis ( J:48084 )

• increase in the interior of the embryo

decreased embryo size ( J:48084 )

• starting at E8.0 and becoming more severe by E9.5

abnormal neural fold formation ( J:48084 )

• 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

abnormal somite development ( J:48084 )

• at E8.5, fewer somites are present

growth/size/body

decreased embryo size ( J:48084 )

• starting at E8.0 and becoming more severe by E9.5

Genotype
MGI:4418485

ht2

• Allelic Composition: Hif1a^tm1Rsjo/Hif1a⁺
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ

nervous system

decreased neuron apoptosis ( J:98637 )

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

cellular

decreased neuron apoptosis ( J:98637 )

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

Genotype
MGI:3621467

cn3

• Allelic Composition: Hif1a^tm1Rsjo/Hif1a^tm3Rsjo; Tg(Col2a1-cre)1Rsjo/?
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * FVB/N

mortality/aging

neonatal lethality, complete penetrance ( J:72709 )

• die within a few hours of birth

respiratory system

abnormal tracheal ciliated epithelium morphology ( J:72709 )

• partially collapsed

abnormal tracheal cartilage morphology ( J:72709 )

• chondrocytes are abnormal and disorganized and the tracheal ring is malformed

respiratory failure ( J:72709 )

• fail to fully inflate the lungs

skeleton

abnormal tracheal cartilage morphology ( J:72709 )

• chondrocytes are abnormal and disorganized and the tracheal ring is malformed

abnormal long bone morphology ( J:72709 )

• 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

disorganized long bone epiphyseal plate ( J:72709 )

• long bone growth plates are misshapen and wider with disrupted organization of the chondrocytes

increased long bone epiphyseal plate size ( J:72709 )

• long bone growth plates are misshapen and wider with disrupted organization of the chondrocytes

decreased length of long bones ( J:72709 )

• shorter long bones

abnormal sternum morphology ( J:72709 )

• 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

abnormal sternocostal joint morphology ( J:72709 )

• 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

abnormal thoracic cage shape ( J:72709 )

• rib cage is wider and misshapen

abnormal cartilage development ( J:72709 )

• massive cell death is seen at the center of cartilagenous elements and a subtle delay in chondrocyte differentiation is seen in the periphery

abnormal long bone epiphyseal plate proliferative zone ( J:72709 )

• in the long bones, an area in the center of the proliferative columnar layer is hypocellular or contains abnormal cells with pyknotic nuclei

abnormal long bone hypertrophic chondrocyte zone ( J:72709 )

• 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

abnormal angiogenesis ( J:72709 )

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

embryo

decreased embryo size ( J:72709 )

limbs/digits/tail

short limbs ( J:72709 )

• short, deformed limbs

growth/size/body

decreased embryo size ( J:72709 )

Genotype
MGI:4459906

cx4

• Allelic Composition: Hif1a^tm1Rsjo/Hif1a^tm1Rsjo; Hif1an^tm1.2Rsjo/Hif1an^tm1.2Rsjo; Vhl^tm1Jae/Vhl^tm1Jae
• Genetic Background: involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ

cellular

cellular phenotype ( J:160941 )

N • proliferation of MEFs after 48 hours of culturing in normoxia or hypoxia conditions is normal

Genotype
MGI:4459911

cx5

• Allelic Composition: Hif1a^tm1Rsjo/Hif1a^tm1Rsjo; Hif1an^tm1.2Rsjo/Hif1an^tm1.2Rsjo
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ

cellular

cellular phenotype ( J:160941 )

N

decreased cell proliferation ( J:160941 )

• of MEFs after 48 hours of culturing in normoxia or hypoxia conditions