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Phenotypes Associated with This Genotype
Genotype
MGI:3583010
Allelic
Composition
Mmp14tm1Hbh/Mmp14tm1Hbh
Genetic
Background
involves: 129P2/OlaHsd * Black Swiss
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Mmp14tm1Hbh mutation (0 available); any Mmp14 mutation (10 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• 33% died from wasting before weaning (J:57969)
• 33% died from wasting before weaning (J:57969)
• most homozygotes that survived past weaning died between days 50 and 90 due to wasting (J:57969)
• most homozygotes that survived past weaning died between days 50 and 90 due to wasting (J:57969)

reproductive system

skeleton
• dysmorphic lower frontal regions of the calvarium due to delayed ossification of calvarial bones (J:57969)
• dysmorphic lower frontal regions of the calvarium due to delayed ossification of calvarial bones (J:57969)
• larger fontanelles (J:57969)
• larger fontanelles (J:57969)
• interparietal bone was displaced and ossification of the interparietal bone was incomplete by day 15 with the fibrous vestige of the cartilage primordium remaining rather than disappearing as in wild-type (J:57969)
• interparietal bone was displaced and ossification of the interparietal bone was incomplete by day 15 with the fibrous vestige of the cartilage primordium remaining rather than disappearing as in wild-type (J:57969)
• only the outer bony plate forms in parietal bones, whereas the inner plate is replaced by remnants of the parietal cartilage anlage (J:86538)
• only the outer bony plate forms in parietal bones, whereas the inner plate is replaced by remnants of the parietal cartilage anlage (J:86538)
• gradually developed orbital protrusions that were obvious at day 5 (J:57969)
• gradually developed orbital protrusions that were obvious at day 5 (J:57969)
• dome-shaped skill with bulging parietal and interparietal regions that was obvious at day 5 (J:57969)
• dome-shaped skill with bulging parietal and interparietal regions that was obvious at day 5 (J:57969)
• fibrosis, reduced cell proliferation and structural disorganization of the periosteal osteogenic layer of long bones was seen in 40 day or older homozygous null mice (J:57969)
• fibrosis, reduced cell proliferation and structural disorganization of the periosteal osteogenic layer of long bones was seen in 40 day or older homozygous null mice (J:57969)
• limb bones appeared shorter and grew to approximately 65% of the length in controls by day 45 (J:57969)
• limb bones appeared shorter and grew to approximately 65% of the length in controls by day 45 (J:57969)
• progressively developed hyperkyphosis (J:57969)
• progressively developed hyperkyphosis (J:57969)
• progressively developed hyperlordosis (J:57969)
• progressively developed hyperlordosis (J:57969)
• became increasingly apparent as a result of increased bone resorption as well as diminished bone formation (J:57969)
• became increasingly apparent as a result of increased bone resorption as well as diminished bone formation (J:57969)
• reduced trabecular bone in the spongiosa and a thinner cortex (J:57969)
• reduced trabecular bone in the spongiosa and a thinner cortex (J:57969)
• severely reduced bone mass in 40 day or older homozygous null mice (J:57969)
• severely reduced bone mass in 40 day or older homozygous null mice (J:57969)
• complete proteoglycan depletion, numerous empty chondroctye lacunae, and apoptosis of residual chondrocytes are seen in Meckel's cartilage vestiges, indicating impaired remodeling of the posterior portion of Meckel's cartilage into bone and ligament (J:86538)
• complete proteoglycan depletion, numerous empty chondroctye lacunae, and apoptosis of residual chondrocytes are seen in Meckel's cartilage vestiges, indicating impaired remodeling of the posterior portion of Meckel's cartilage into bone and ligament (J:86538)
• reduced chondrocyte proliferation in growth plates of 39-day old, but not 10 day old, homozygous null mice (J:57969)
• reduced chondrocyte proliferation in growth plates of 39-day old, but not 10 day old, homozygous null mice (J:57969)
• empty chondrocyte lacunae are seen in cartilage vestiges (ghost cartilage) and remaining chondrocytes undergo apoptosis (J:86538)
• apoptotic calvarial chondrocytes are randomly distributed within the cartilage (J:86538)
• empty chondrocyte lacunae are seen in cartilage vestiges (ghost cartilage) and remaining chondrocytes undergo apoptosis (J:86538)
• apoptotic calvarial chondrocytes are randomly distributed within the cartilage (J:86538)
• joints show ghost (empty lacunae) cartilages at sites of transition between different articular tissue (J:86538)
• joints show ghost (empty lacunae) cartilages at sites of transition between different articular tissue (J:86538)
• incomplete suture closure (J:57969)
• incomplete suture closure (J:57969)
• abnormal long bone development, with delayed ossification of the epiphysis and reduced longitudinal growth (J:57969)
• abnormal long bone development, with delayed ossification of the epiphysis and reduced longitudinal growth (J:57969)
• skeletal stem cells exhibit a stronger predisposition to commit to the adipocyte lineage compared with wild-type cells (J:198679)
• skeletal stem cells exhibit a heightened chondrogenic potential compared with wild-type cells (J:198679)
• transplanted skeletal stem cells exhibit impaired osteogenesis and enhanced adipogenic and chondrogenic potential compared with wild-type cell (J:198679)
• skeletal stem cells exhibit a stronger predisposition to commit to the adipocyte lineage compared with wild-type cells (J:198679)
• skeletal stem cells exhibit a heightened chondrogenic potential compared with wild-type cells (J:198679)
• transplanted skeletal stem cells exhibit impaired osteogenesis and enhanced adipogenic and chondrogenic potential compared with wild-type cell (J:198679)
• in a 3D collagen hydrogels (J:198679)
• in a 3D collagen hydrogels (J:198679)
• metaphyseal growth plates showed progressive thinning, disorganization, and lack of chondrocyte proliferation (J:57969)
• delayed ossification of the epiphysis (J:57969)
• metaphyseal growth plates showed progressive thinning, disorganization, and lack of chondrocyte proliferation (J:57969)
• delayed ossification of the epiphysis (J:57969)
• vestiges of embryonic cranial cartilages that precede membranous bone persist on the inner aspect of the skull up to 62 days of age (J:86538)
• vestiges of embryonic cranial cartilages that precede membranous bone persist on the inner aspect of the skull up to 62 days of age (J:86538)
• developed severe generalized arthritis, with all joints showing overgrowth of a hypercellular, vascularized synovial tissue and destruction of articular cartilage, resulting in ankylosis (J:57969)
• developed severe generalized arthritis, with all joints showing overgrowth of a hypercellular, vascularized synovial tissue and destruction of articular cartilage, resulting in ankylosis (J:57969)
• bone formation was drastically reduced and vascular canals that invade uncalcified epiphyseal cartilage did not form (J:57969)
• parietal cartilage was never removed and was gradually transformed into an increasingly fibrotic and acellular vestige on the inner aspect of the underdeveloped parietal/interparietal bone, however endochondral ossification of the cartilage precursor of the pars petrosa occurred normally (J:57969)
• bone formation was drastically reduced and vascular canals that invade uncalcified epiphyseal cartilage did not form (J:57969)
• parietal cartilage was never removed and was gradually transformed into an increasingly fibrotic and acellular vestige on the inner aspect of the underdeveloped parietal/interparietal bone, however endochondral ossification of the cartilage precursor of the pars petrosa occurred normally (J:57969)
• delayed membranous ossification of calvarial bones and delayed postnatal development of the epiphyseal (secondary) ossification centers (J:57969)
• delayed membranous ossification of calvarial bones and delayed postnatal development of the epiphyseal (secondary) ossification centers (J:57969)
• impaired remodeling of unmineralized cartilage into cortical bone resulting in the retention of unmineralized portions of articular cartilages that would normally undergo resorption during growth (J:86538)
• impaired remodeling of unmineralized cartilage into cortical bone resulting in the retention of unmineralized portions of articular cartilages that would normally undergo resorption during growth (J:86538)
• excessive osteoclastic resorption in all bones of mice aged 40 days or older (J:57969)
• excessive osteoclastic resorption in all bones of mice aged 40 days or older (J:57969)
• although 62 day old mutants exhibit osteoclastic resorption of the parietal bone outer bony plate, the cartilage vestige occupying the region of the missing inner bony plate remains undegraded (J:86538)
• although 62 day old mutants exhibit osteoclastic resorption of the parietal bone outer bony plate, the cartilage vestige occupying the region of the missing inner bony plate remains undegraded (J:86538)

growth/size/body
• obvious at P5 (J:57969)
• obvious at P5 (J:57969)
• weight ranged from 3.5-5 grams versus 12-16 grams for wild-type, and gained little weight over time (J:57969)
• weight ranged from 3.5-5 grams versus 12-16 grams for wild-type, and gained little weight over time (J:57969)
• progressive wasting (J:57969)
• progressive wasting (J:57969)

behavior/neurological
• progressively showed reduced mobility (J:57969)
• progressively showed reduced mobility (J:57969)

vision/eye
• gradually developed orbital protrusions that were obvious at day 5 (J:57969)
• gradually developed orbital protrusions that were obvious at day 5 (J:57969)

integument
• patchy hair loss over time (J:57969)
• patchy hair loss over time (J:57969)
• progressive fibrosis was also seen in the dermis, hair follicles, and osteogenic periosteum (J:57969)
• progressive fibrosis was also seen in the dermis, hair follicles, and osteogenic periosteum (J:57969)

cellular
• in a 3D collagen hydrogels (J:198679)
• in a 3D collagen hydrogels (J:198679)

craniofacial
• incomplete suture closure (J:57969)
• incomplete suture closure (J:57969)
• dysmorphic lower frontal regions of the calvarium due to delayed ossification of calvarial bones (J:57969)
• dysmorphic lower frontal regions of the calvarium due to delayed ossification of calvarial bones (J:57969)
• larger fontanelles (J:57969)
• larger fontanelles (J:57969)
• interparietal bone was displaced and ossification of the interparietal bone was incomplete by day 15 with the fibrous vestige of the cartilage primordium remaining rather than disappearing as in wild-type (J:57969)
• interparietal bone was displaced and ossification of the interparietal bone was incomplete by day 15 with the fibrous vestige of the cartilage primordium remaining rather than disappearing as in wild-type (J:57969)
• only the outer bony plate forms in parietal bones, whereas the inner plate is replaced by remnants of the parietal cartilage anlage (J:86538)
• only the outer bony plate forms in parietal bones, whereas the inner plate is replaced by remnants of the parietal cartilage anlage (J:86538)
• gradually developed orbital protrusions that were obvious at day 5 (J:57969)
• gradually developed orbital protrusions that were obvious at day 5 (J:57969)
• dome-shaped skill with bulging parietal and interparietal regions that was obvious at day 5 (J:57969)
• dome-shaped skill with bulging parietal and interparietal regions that was obvious at day 5 (J:57969)
• complete proteoglycan depletion, numerous empty chondroctye lacunae, and apoptosis of residual chondrocytes are seen in Meckel's cartilage vestiges, indicating impaired remodeling of the posterior portion of Meckel's cartilage into bone and ligament (J:86538)
• complete proteoglycan depletion, numerous empty chondroctye lacunae, and apoptosis of residual chondrocytes are seen in Meckel's cartilage vestiges, indicating impaired remodeling of the posterior portion of Meckel's cartilage into bone and ligament (J:86538)
• obvious at P5 (J:57969)
• obvious at P5 (J:57969)

immune system
• excessive osteoclastic resorption in all bones of mice aged 40 days or older (J:57969)
• excessive osteoclastic resorption in all bones of mice aged 40 days or older (J:57969)
• although 62 day old mutants exhibit osteoclastic resorption of the parietal bone outer bony plate, the cartilage vestige occupying the region of the missing inner bony plate remains undegraded (J:86538)
• although 62 day old mutants exhibit osteoclastic resorption of the parietal bone outer bony plate, the cartilage vestige occupying the region of the missing inner bony plate remains undegraded (J:86538)
• developed severe generalized arthritis, with all joints showing overgrowth of a hypercellular, vascularized synovial tissue and destruction of articular cartilage, resulting in ankylosis (J:57969)
• developed severe generalized arthritis, with all joints showing overgrowth of a hypercellular, vascularized synovial tissue and destruction of articular cartilage, resulting in ankylosis (J:57969)

limbs/digits/tail
• exhibited kinking of the wrist (J:57969)
• exhibited kinking of the wrist (J:57969)

hematopoietic system
• excessive osteoclastic resorption in all bones of mice aged 40 days or older (J:57969)
• excessive osteoclastic resorption in all bones of mice aged 40 days or older (J:57969)
• although 62 day old mutants exhibit osteoclastic resorption of the parietal bone outer bony plate, the cartilage vestige occupying the region of the missing inner bony plate remains undegraded (J:86538)
• although 62 day old mutants exhibit osteoclastic resorption of the parietal bone outer bony plate, the cartilage vestige occupying the region of the missing inner bony plate remains undegraded (J:86538)

muscle
• tendons, ligaments, synovial capsules, musculotendinal junctions, and septal/fascial structures associated with skeletal muscle all displayed increased cell proliferation and vascularity and became increasingly fibrotic (J:57969)
• tendons, ligaments, synovial capsules, musculotendinal junctions, and septal/fascial structures associated with skeletal muscle all displayed increased cell proliferation and vascularity and became increasingly fibrotic (J:57969)

Mouse Models of Human Disease
OMIM ID Ref(s)
Osteopenia and Sparse Hair 259690 J:57969
Rheumatoid Arthritis; RA 180300 J:57969


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
02/02/2016
MGI 6.02
The Jackson Laboratory