About   Help   FAQ
Phenotypes Associated with This Genotype
Genotype
MGI:3772048
Allelic
Composition
Mmp14tm1Hbh/Mmp14tm1Hbh
Mmp16tm1Khol/Mmp16tm1Khol
Genetic
Background
involves: 129P2/OlaHsd * 129S6/SvEvTac
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Mmp14tm1Hbh mutation (0 available); any Mmp14 mutation (43 available)
Mmp16tm1Khol mutation (0 available); any Mmp16 mutation (43 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• all but one mice die within 1 day of birth

skeleton
• apoptosis of skeletal cells is increased 280+/-70% compared to in wild-type mice
• the number of bone lining cells is decreased compared to in wild-type mice and the majority of connective tissue cells are dispersed between individual bone trabeculae
• mice exhibit poor development of the frontal bones
• the parietal bone near the sagittal suture is abnormal and contains azurophilic patches
• mice exhibit poor development of the parietal bones
• the pterygoid bone is underdeveloped
• mice exhibit a thinning of the cranial vault proportional to the loss of wild-type alleles
• trabeculae of the mandible are aberrant and thin compared to in wild-type mice
• mice exhibit poor development of the nasal bones
• mice exhibit pitting and lack of fusion to the maxilla
• mice exhibit hypoplasia of the vomer
• mice exhibit a domed skull that is more severe than in Mmp14tm1Hbh homozygotes
• severity is proportional to the number of wild-type alleles lost
• at E18.5, humerus cortical length is 51+/-4.75% of wild-type
• severity is proportional to the number of wild-type alleles lost
• at E18.5, femur length is 65+/-2.5% of wild-type
• however, length at day 30 is normal
• cortical bone formation is abnormal and the humeri and femora exhibit shortening of the bone cortices proportional to the number of wild-type alleles lost
• mice exhibit a lack of trabeculae in the marrow cavity
• Meckel's cartilage is conspicuous in size
• the proliferating zone contains fewer cells than in wild-type mice
• the hypertrophic chondrocyte zone is elongated compared to in wild-type mice
• the number of proliferating chondrocytes in the distal femoral epiphysis decreases proportionally to the number of wild-type alleles lost to 25.7+/-4.8% of wild-type
• unlike in wild-type mice primary ossification centers are occupied by un-degraded hypertrophic cartilage
• mice exhibit diminished bone formation

growth/size/body
• mice exhibit poor development of the nasal bones
• palatial shelf growth is reduced
• mice exhibit a shorter mid-face than in Mmp14tm1Hbh homozygotes
• 80% of mice exhibit cleft palates
• mice are born small, moribund and fail to eat

limbs/digits/tail
• severity is proportional to the number of wild-type alleles lost
• at E18.5, humerus cortical length is 51+/-4.75% of wild-type
• severity is proportional to the number of wild-type alleles lost
• at E18.5, femur length is 65+/-2.5% of wild-type
• however, length at day 30 is normal

craniofacial
• Meckel's cartilage is conspicuous in size
• mice exhibit poor development of the frontal bones
• the parietal bone near the sagittal suture is abnormal and contains azurophilic patches
• mice exhibit poor development of the parietal bones
• the pterygoid bone is underdeveloped
• mice exhibit a thinning of the cranial vault proportional to the loss of wild-type alleles
• trabeculae of the mandible are aberrant and thin compared to in wild-type mice
• mice exhibit poor development of the nasal bones
• mice exhibit pitting and lack of fusion to the maxilla
• mice exhibit hypoplasia of the vomer
• mice exhibit a domed skull that is more severe than in Mmp14tm1Hbh homozygotes
• palatial shelf growth is reduced
• mice exhibit a shorter mid-face than in Mmp14tm1Hbh homozygotes
• 80% of mice exhibit cleft palates

digestive/alimentary system
• palatial shelf growth is reduced
• 80% of mice exhibit cleft palates

respiratory system
• mice exhibit poor development of the nasal bones


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support.
last database update
06/12/2024
MGI 6.13
The Jackson Laboratory