Phenotypes associated with this allele

• Allele Symbol: Mmp14^tm1Ktry
• Allele Name: targeted mutation 1, Karl Tryggvason
• Allele ID: MGI:2386246
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Mmp14^tm1Ktry/Mmp14^tm1Ktry	B6.129X1-Mmp14^tm1Ktry	MGI:3652598
hm2	Mmp14^tm1Ktry/Mmp14^tm1Ktry	involves: 129X1/SvJ	MGI:3652681
hm3	Mmp14^tm1Ktry/Mmp14^tm1Ktry	involves: 129X1/SvJ * C57BL/6	MGI:3652747

Genotype
MGI:3652598

hm1

• Allelic Composition: Mmp14^tm1Ktry/Mmp14^tm1Ktry
• Genetic Background: B6.129X1-Mmp14^tm1Ktry

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

Histology and immunohistology of growth zones in distal femur of Mmp14^tm1Ktry/Mmp14^tm1Ktry mice

mortality/aging

lethality at weaning, complete penetrance ( J:61685 )

• die around 3 weeks of age

growth/size/body

abnormal upper incisor morphology ( J:61685 )

• upper incisor is curved inward, resulting in malocclusion

short incisors ( J:61685 )

• upper and lower incisors are short

short lower incisors ( J:61685 )

short upper incisors ( J:61685 )

malocclusion ( J:61685 )

• upper incisor is curved inward, resulting in malocclusion

short snout ( J:61685 )

• observed at birth

decreased body weight ( J:61685 )

• decreased body weight is obvious from 3-4 days after birth and is most prominent immediately before death at around 3 weeks, when they are 30-40% of the body weight of wild-type

cachexia ( J:61685 )

• suffer from wasting starting at around 1 week of age and cannot be successfully weaned

craniofacial

abnormal craniofacial morphology ( J:61685 )

• altered craniofacial features are obvious from 3-4 days after birth

abnormal cranium morphology ( J:61685 )

• smaller skull bones seen after birth

abnormal cranial suture morphology ( J:61685 )

• at birth, exhibit prominent suture lines in the cranium

small cranial cavity ( J:61685 )

• the cranial cavity is significantly smaller

abnormal cranial vertex morphology ( J:61685 )

• the vertex region shows no mineralization

abnormal neurocranium morphology ( J:61685 )

• lack the bony coverage of the region between the two parietal and the interparietal bones

abnormal upper incisor morphology ( J:61685 )

• upper incisor is curved inward, resulting in malocclusion

short incisors ( J:61685 )

• upper and lower incisors are short

short lower incisors ( J:61685 )

short upper incisors ( J:61685 )

malocclusion ( J:61685 )

• upper incisor is curved inward, resulting in malocclusion

short mandible ( J:61685 )

short maxilla ( J:61685 )

domed cranium ( J:61685 )

• observed at birth

short snout ( J:61685 )

• observed at birth

skeleton

abnormal axial skeleton morphology ( J:61685 )

• all bony elements in the axial skeleton are reduced in size, with bones both shorter and thinner

abnormal cranium morphology ( J:61685 )

• smaller skull bones seen after birth

abnormal cranial suture morphology ( J:61685 )

• at birth, exhibit prominent suture lines in the cranium

small cranial cavity ( J:61685 )

• the cranial cavity is significantly smaller

abnormal cranial vertex morphology ( J:61685 )

• the vertex region shows no mineralization

abnormal neurocranium morphology ( J:61685 )

• lack the bony coverage of the region between the two parietal and the interparietal bones

abnormal upper incisor morphology ( J:61685 )

• upper incisor is curved inward, resulting in malocclusion

short incisors ( J:61685 )

• upper and lower incisors are short

short lower incisors ( J:61685 )

short upper incisors ( J:61685 )

malocclusion ( J:61685 )

• upper incisor is curved inward, resulting in malocclusion

short mandible ( J:61685 )

short maxilla ( J:61685 )

domed cranium ( J:61685 )

• observed at birth

abnormal cartilage development ( J:61685 )

• delayed resorption of cartilage during endochondral ossification

abnormal long bone epiphyseal plate proliferative zone ( J:61685 )

• 2 week old mutants show decreased cell proliferation in the proliferative zone and the proliferative zone becomes disorganized after 2 weeks of age

increased width of hypertrophic chondrocyte zone ( J:61685 )

• E16.5 embryos show a 3- to 4-fold increase in the thickness of the hypertrophic zone, which is still increased but to a smaller degree during the postnatal time

abnormal bone ossification ( J:61685 )

• poor development of the secondary ossification centers that form after birth; at 2 weeks of age, the secondary ossification nuclei in the distal femur and proximal tibia are absent, and instead there is a mass of hypertrophic chondrocytes surrounded by chondroid matrix with streaks of osteoid deposition

abnormal bone mineralization ( J:61685 )

• the vertex region of the cranium shows no mineralization

• CT scans show relative lack of mineralization

delayed endochondral bone ossification ( J:61685 )

• vascularization of chondroepiphyses is severely impaired, leading to delayed ossification of secondary ossification nuclei

behavior/neurological

decreased locomotor activity ( J:61685 )

• from about 1 week of age, mutants are less active than wild-type

cardiovascular system

decreased angiogenesis ( J:61685 )

• exhibit no evidence of vascularization in the secondary ossification zone

• in an in vivo corneal angiogenesis assay, mutants exhibit complete absence of blood vessel growth in response to implanted FGF-2

limbs/digits/tail

short limbs ( J:61685 )

• all bony elements in the appendicular skeleton are reduced in size, with bones both shorter and thinner

integument

loose skin ( J:61685 )

• form about 1 week of age, mutants exhibit lax skin

Genotype
MGI:3652681

hm2

• Allelic Composition: Mmp14^tm1Ktry/Mmp14^tm1Ktry
• Genetic Background: involves: 129X1/SvJ

craniofacial

abnormal incisor morphology ( J:103089 )

• position of the incisor apex is anterior to that seen in controls and barely extends past the third molar at P20

abnormal tooth development ( J:103089 )

• starting at P18, observe a developmental delay of molars such that at P18, the molars have not yet erupted and the roots are underdeveloped

• by P23, the first two molars have erupted, however they are still covered by adherent debris that appears to be remnants of the overlying epithelium and by P25 this debris is mostly removed, however dentin and enamel appear normal

delayed tooth eruption ( J:103089 )

• exhibit a developmental delay of approximately 5 days in tooth eruption

small mandible ( J:103089 )

• at P20, the hemimandibles are small and deformed, the ventral margin radius is more acute than those of controls, far less bone is present anterior to the first molar diastema, and the overall mass of bone is reduced

skeleton

abnormal incisor morphology ( J:103089 )

• position of the incisor apex is anterior to that seen in controls and barely extends past the third molar at P20

abnormal tooth development ( J:103089 )

• starting at P18, observe a developmental delay of molars such that at P18, the molars have not yet erupted and the roots are underdeveloped

• by P23, the first two molars have erupted, however they are still covered by adherent debris that appears to be remnants of the overlying epithelium and by P25 this debris is mostly removed, however dentin and enamel appear normal

delayed tooth eruption ( J:103089 )

• exhibit a developmental delay of approximately 5 days in tooth eruption

small mandible ( J:103089 )

• at P20, the hemimandibles are small and deformed, the ventral margin radius is more acute than those of controls, far less bone is present anterior to the first molar diastema, and the overall mass of bone is reduced

immune system

abnormal dendritic cell physiology ( J:138782 )

• cultured dendritic cells lose nearly all of their matrix-degrading activity comapred to in wild-type cells

growth/size/body

abnormal incisor morphology ( J:103089 )

• position of the incisor apex is anterior to that seen in controls and barely extends past the third molar at P20

abnormal tooth development ( J:103089 )

• starting at P18, observe a developmental delay of molars such that at P18, the molars have not yet erupted and the roots are underdeveloped

• by P23, the first two molars have erupted, however they are still covered by adherent debris that appears to be remnants of the overlying epithelium and by P25 this debris is mostly removed, however dentin and enamel appear normal

delayed tooth eruption ( J:103089 )

• exhibit a developmental delay of approximately 5 days in tooth eruption

Genotype
MGI:3652747

hm3

• Allelic Composition: Mmp14^tm1Ktry/Mmp14^tm1Ktry
• Genetic Background: involves: 129X1/SvJ * C57BL/6

mortality/aging

postnatal lethality, complete penetrance ( J:95881 )

• die between 2 and 3 weeks of age

respiratory system

abnormal lung morphology ( J:95881 )

• lungs have increased peripheral transparency and show surface bullae upon inflation, suggesting hyperinflation of the peripheral air spaces and attenuation of the parenchymal walls at the pleural surface

• the peripheral (subpleural) region of the lung is thinner

• isolated lung endothelial cells exhibit decreased transmigration through matrigel-coated fibers and decreased spontaneous formation of cord-like or tube-like structures

small lung ( J:95881 )

abnormal pulmonary alveolus morphology ( J:95881 )

• air spaces have smooth walls compared to the normal, irregularly corrugated walls of wild-type

• very few secondary septae are seen at 2 weeks of age, and when present, they are short and triangular in cross-section

overexpanded pulmonary alveolus ( J:95881 )

• exhibit enlarged air saccules at 2 weeks of age with thinner walls between them

abnormal bronchiole morphology ( J:95881 )

• by E16.5 and E18.5 but not earlier, show thinner distal bronchioles

endocrine/exocrine glands

abnormal submandibular gland branching morphogenesis ( J:95881 )

• when grown in culture, submandibular gland rudiments exhibit fewer end buds and the end buds appear dilated, indicating defective branching morphogenesis

decreased submandibular gland size ( J:95881 )

• submandibular glands at 2 weeks of age are smaller and have smaller lobules

digestive/alimentary system

abnormal submandibular gland branching morphogenesis ( J:95881 )

• when grown in culture, submandibular gland rudiments exhibit fewer end buds and the end buds appear dilated, indicating defective branching morphogenesis

decreased submandibular gland size ( J:95881 )

• submandibular glands at 2 weeks of age are smaller and have smaller lobules