Phenotypes Associated with This Genotype

Genotype
MGI:3621466

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

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

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 )