Phenotypes associated with this allele

• Allele Symbol: Mmp16^tm1Khol
• Allele Name: targeted mutation 1, Kenn Holmbeck
• Allele ID: MGI:3771975
• Summary: 6 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Mmp16^tm1Khol/Mmp16^tm1Khol	involves: 129S6/SvEvTac	MGI:3772046
ht2	Mmp16^tm1Khol/Mmp16^+	involves: 129S6/SvEvTac	MGI:3772047
cx3	Mmp14^tm1Hbh/Mmp14^tm1Hbh Mmp16^tm1Khol/Mmp16^tm1Khol	involves: 129P2/OlaHsd * 129S6/SvEvTac	MGI:3772048
cx4	Mmp14^tm1Hbh/Mmp14^tm1Hbh Mmp16^tm1Khol/Mmp16^+	involves: 129P2/OlaHsd * 129S6/SvEvTac	MGI:3772052
cx5	Mmp14^tm1Hbh/Mmp14^+ Mmp16^tm1Khol/Mmp16^tm1Khol	involves: 129P2/OlaHsd * 129S6/SvEvTac	MGI:3772055
cx6	Mmp14^tm1Hbh/Mmp14^+ Mmp16^tm1Khol/Mmp16^+	involves: 129P2/OlaHsd * 129S6/SvEvTac	MGI:3772056

Genotype
MGI:3772046

hm1

• Allelic Composition: Mmp16^tm1Khol/Mmp16^tm1Khol
• Genetic Background: involves: 129S6/SvEvTac

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

skeleton

decreased cranium length ( J:130212 )

• at day 30, the cranium length is reduced to 91% of wild-type

short humerus ( J:130212 )

• at day 20, humerus length is 92+/-1% of wild-type

growth/size/body

postnatal growth retardation ( J:130212 )

• mice exhibit growth retardation of the skeleton after birth

limbs/digits/tail

short humerus ( J:130212 )

• at day 20, humerus length is 92+/-1% of wild-type

craniofacial

decreased cranium length ( J:130212 )

• at day 30, the cranium length is reduced to 91% of wild-type

Genotype
MGI:3772047

ht2

• Allelic Composition: Mmp16^tm1Khol/Mmp16⁺
• Genetic Background: involves: 129S6/SvEvTac

skeleton

decreased cranium length ( J:130212 )

• at day 30, the cranium length is reduced to 95% of wild-type

craniofacial

decreased cranium length ( J:130212 )

• at day 30, the cranium length is reduced to 95% of wild-type

Genotype
MGI:3772048

cx3

• Allelic Composition: Mmp14^tm1Hbh/Mmp14^tm1Hbh; Mmp16^tm1Khol/Mmp16^tm1Khol
• Genetic Background: involves: 129P2/OlaHsd * 129S6/SvEvTac

mortality/aging

neonatal lethality, complete penetrance ( J:130212 )

• all but one mice die within 1 day of birth

skeleton

abnormal skeleton morphology ( J:130212 )

• 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

abnormal cranium morphology ( J:130212 )

frontal bone hypoplasia ( J:130212 )

• mice exhibit poor development of the frontal bones

abnormal parietal bone morphology ( J:130212 )

• the parietal bone near the sagittal suture is abnormal and contains azurophilic patches

parietal bone hypoplasia ( J:130212 )

• mice exhibit poor development of the parietal bones

pterygoid bone hypoplasia ( J:130212 )

• the pterygoid bone is underdeveloped

thin neurocranium ( J:130212 )

• mice exhibit a thinning of the cranial vault proportional to the loss of wild-type alleles

abnormal mandible morphology ( J:130212 )

• trabeculae of the mandible are aberrant and thin compared to in wild-type mice

maxilla hypoplasia ( J:130212 )

nasal bone hypoplasia ( J:130212 )

• mice exhibit poor development of the nasal bones

absent palatine bone ( J:130212 )

abnormal vomer bone morphology ( J:130212 )

• mice exhibit pitting and lack of fusion to the maxilla

vomer bone hypoplasia ( J:130212 )

• mice exhibit hypoplasia of the vomer

domed cranium ( J:130212 )

• mice exhibit a domed skull that is more severe than in Mmp14^tm1Hbh homozygotes

abnormal long bone morphology ( J:130212 )

short humerus ( J:130212 )

• severity is proportional to the number of wild-type alleles lost

• at E18.5, humerus cortical length is 51+/-4.75% of wild-type

short femur ( J:130212 )

• 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

abnormal compact bone morphology ( J:130212 )

• 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

absent bone trabeculae ( J:130212 )

• mice exhibit a lack of trabeculae in the marrow cavity

abnormal cartilage morphology ( J:130212 )

abnormal Meckel's cartilage morphology ( J:130212 )

• Meckel's cartilage is conspicuous in size

abnormal long bone epiphyseal plate proliferative zone ( J:130212 )

• the proliferating zone contains fewer cells than in wild-type mice

abnormal long bone hypertrophic chondrocyte zone ( J:130212 )

• the hypertrophic chondrocyte zone is elongated compared to in wild-type mice

abnormal chondrocyte morphology ( J:130212 )

• 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

decreased bone ossification ( J:130212 )

• unlike in wild-type mice primary ossification centers are occupied by un-degraded hypertrophic cartilage

• mice exhibit diminished bone formation

growth/size/body

nasal bone hypoplasia ( J:130212 )

• mice exhibit poor development of the nasal bones

palatal shelves fail to meet at midline ( J:130212 )

• fusion is absent

palatal shelf hypoplasia ( J:130212 )

• palatial shelf growth is reduced

abnormal midface morphology ( J:130212 )

• mice exhibit a shorter mid-face than in Mmp14^tm1Hbh homozygotes

cleft secondary palate ( J:130212 )

• 80% of mice exhibit cleft palates

short snout ( J:130212 )

decreased body size ( J:130212 )

• mice are born small, moribund and fail to eat

limbs/digits/tail

short humerus ( J:130212 )

• severity is proportional to the number of wild-type alleles lost

• at E18.5, humerus cortical length is 51+/-4.75% of wild-type

short femur ( J:130212 )

• 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

short limbs ( J:130212 )

craniofacial

abnormal cranium morphology ( J:130212 )

abnormal Meckel's cartilage morphology ( J:130212 )

• Meckel's cartilage is conspicuous in size

frontal bone hypoplasia ( J:130212 )

• mice exhibit poor development of the frontal bones

abnormal parietal bone morphology ( J:130212 )

• the parietal bone near the sagittal suture is abnormal and contains azurophilic patches

parietal bone hypoplasia ( J:130212 )

• mice exhibit poor development of the parietal bones

pterygoid bone hypoplasia ( J:130212 )

• the pterygoid bone is underdeveloped

thin neurocranium ( J:130212 )

• mice exhibit a thinning of the cranial vault proportional to the loss of wild-type alleles

abnormal mandible morphology ( J:130212 )

• trabeculae of the mandible are aberrant and thin compared to in wild-type mice

maxilla hypoplasia ( J:130212 )

nasal bone hypoplasia ( J:130212 )

• mice exhibit poor development of the nasal bones

absent palatine bone ( J:130212 )

abnormal vomer bone morphology ( J:130212 )

• mice exhibit pitting and lack of fusion to the maxilla

vomer bone hypoplasia ( J:130212 )

• mice exhibit hypoplasia of the vomer

domed cranium ( J:130212 )

• mice exhibit a domed skull that is more severe than in Mmp14^tm1Hbh homozygotes

palatal shelves fail to meet at midline ( J:130212 )

• fusion is absent

palatal shelf hypoplasia ( J:130212 )

• palatial shelf growth is reduced

abnormal midface morphology ( J:130212 )

• mice exhibit a shorter mid-face than in Mmp14^tm1Hbh homozygotes

cleft secondary palate ( J:130212 )

• 80% of mice exhibit cleft palates

short snout ( J:130212 )

digestive/alimentary system

palatal shelves fail to meet at midline ( J:130212 )

• fusion is absent

palatal shelf hypoplasia ( J:130212 )

• palatial shelf growth is reduced

cleft secondary palate ( J:130212 )

• 80% of mice exhibit cleft palates

respiratory system

nasal bone hypoplasia ( J:130212 )

• mice exhibit poor development of the nasal bones

Genotype
MGI:3772052

cx4

• Allelic Composition: Mmp14^tm1Hbh/Mmp14^tm1Hbh; Mmp16^tm1Khol/Mmp16⁺
• Genetic Background: involves: 129P2/OlaHsd * 129S6/SvEvTac

mortality/aging

postnatal lethality, complete penetrance ( J:130212 )

• mice have a median survival of 16 days after birth

skeleton

frontal bone hypoplasia ( J:130212 )

• mice exhibit poor development of the frontal bones

parietal bone hypoplasia ( J:130212 )

• mice exhibit poor development of the parietal bones

thin neurocranium ( J:130212 )

• mice exhibit a thinning of the cranial vault proportional to the loss of wild-type alleles

nasal bone hypoplasia ( J:130212 )

• mice exhibit poor development of the nasal bones

abnormal long bone morphology ( J:130212 )

short humerus ( J:130212 )

• severity is proportional to the number of wild-type alleles lost

• at E18.5, humerus cortical length is 76+/-4.82% of wild-type

short femur ( J:130212 )

• at E18.5, femur length is 74+/-3.3% of wild-type

• however, length at day 30 is normal

• severity is proportional to the number of wild-type alleles lost

abnormal compact bone morphology ( J:130212 )

• 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

abnormal cartilage morphology ( J:130212 )

abnormal long bone epiphyseal plate proliferative zone ( J:130212 )

• the proliferating zone contains fewer cells than in wild-type mice but not as few as in Mmp14^tm1Hbh Mmp16^tm1Khol double homozygotes

abnormal long bone hypertrophic chondrocyte zone ( J:130212 )

• the hypertrophic chondrocyte zone is elongated compared to in wild-type mice but not as much as in Mmp14^tm1Hbh Mmp16^tm1Khol double homozygotes

abnormal chondrocyte morphology ( J:130212 )

• the number of proliferating chondrocytes in the distal femoral epiphysis decreases proportionally to the number of wild-type alleles lost

decreased bone ossification ( J:130212 )

• mice exhibit diminished bone formation

limbs/digits/tail

short humerus ( J:130212 )

• severity is proportional to the number of wild-type alleles lost

• at E18.5, humerus cortical length is 76+/-4.82% of wild-type

short femur ( J:130212 )

• severity is proportional to the number of wild-type alleles lost

• at E18.5, femur length is 74+/-3.3% of wild-type

• however, length at day 30 is normal

craniofacial

frontal bone hypoplasia ( J:130212 )

• mice exhibit poor development of the frontal bones

parietal bone hypoplasia ( J:130212 )

• mice exhibit poor development of the parietal bones

thin neurocranium ( J:130212 )

• mice exhibit a thinning of the cranial vault proportional to the loss of wild-type alleles

nasal bone hypoplasia ( J:130212 )

• mice exhibit poor development of the nasal bones

respiratory system

nasal bone hypoplasia ( J:130212 )

• mice exhibit poor development of the nasal bones

growth/size/body

nasal bone hypoplasia ( J:130212 )

• mice exhibit poor development of the nasal bones

Genotype
MGI:3772055

cx5

• Allelic Composition: Mmp14^tm1Hbh/Mmp14⁺; Mmp16^tm1Khol/Mmp16^tm1Khol
• Genetic Background: involves: 129P2/OlaHsd * 129S6/SvEvTac

mortality/aging

postnatal lethality, incomplete penetrance ( J:130212 )

• only 80% of mice survive until weaning

skeleton

decreased cranium length ( J:130212 )

• at day 30, the cranium length is reduced to 86% of wild-type

frontal bone hypoplasia ( J:130212 )

• mice exhibit poor development of the frontal bones

parietal bone hypoplasia ( J:130212 )

• mice exhibit poor development of the parietal bones

thin neurocranium ( J:130212 )

• mice exhibit a thinning of the cranial vault proportional to the loss of wild-type alleles

nasal bone hypoplasia ( J:130212 )

• mice exhibit poor development of the nasal bones

short humerus ( J:130212 )

• severity is proportional to the number of wild-type alleles lost

• at E18.5, humerus cortical length is 87+/-0.7% of wild-type

• at day 20, humerus length is 90+/-0.7% of wild-type

• at day 50, humerus length is 87+/-1% of wild-type

short femur ( J:130212 )

• severity is proportional to the number of wild-type alleles lost

• at E18.5, femur length is 86+/-1% of wild-type

• however, length at day 30 is normal

abnormal compact bone morphology ( J:130212 )

• 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

abnormal chondrocyte morphology ( J:130212 )

• the number of proliferating chondrocytes in the distal femoral epiphysis decreases proportionally to the number of wild-type alleles lost

decreased bone ossification ( J:130212 )

• mice exhibit diminished bone formation

limbs/digits/tail

short humerus ( J:130212 )

• severity is proportional to the number of wild-type alleles lost

• at E18.5, humerus cortical length is 87+/-0.7% of wild-type

• at day 20, humerus length is 90+/-0.7% of wild-type

• at day 50, humerus length is 87+/-1% of wild-type

short femur ( J:130212 )

• severity is proportional to the number of wild-type alleles lost

• at E18.5, femur length is 86+/-1% of wild-type

• however, length at day 30 is normal

craniofacial

decreased cranium length ( J:130212 )

• at day 30, the cranium length is reduced to 86% of wild-type

frontal bone hypoplasia ( J:130212 )

• mice exhibit poor development of the frontal bones

parietal bone hypoplasia ( J:130212 )

• mice exhibit poor development of the parietal bones

thin neurocranium ( J:130212 )

• mice exhibit a thinning of the cranial vault proportional to the loss of wild-type alleles

nasal bone hypoplasia ( J:130212 )

• mice exhibit poor development of the nasal bones

short snout ( J:130212 )

• at day 75 the snout is shorter than in Mmp16^tm1Khol homozygotes

growth/size/body

nasal bone hypoplasia ( J:130212 )

• mice exhibit poor development of the nasal bones

short snout ( J:130212 )

• at day 75 the snout is shorter than in Mmp16^tm1Khol homozygotes

respiratory system

nasal bone hypoplasia ( J:130212 )

• mice exhibit poor development of the nasal bones

Genotype
MGI:3772056

cx6

• Allelic Composition: Mmp14^tm1Hbh/Mmp14⁺; Mmp16^tm1Khol/Mmp16⁺
• Genetic Background: involves: 129P2/OlaHsd * 129S6/SvEvTac

skeleton

decreased cranium length ( J:130212 )

• at day 30, the cranium length is reduced to 91% of wild-type

short humerus ( J:130212 )

• at day 20, humerus length is 94+/-1.2% of wild-type

• at day 50, humerus length is 93+/-0.7% of wild-type

abnormal chondrocyte morphology ( J:130212 )

• the number of proliferating chondrocytes in the distal femoral epiphysis decreases proportionally to the number of wild-type alleles lost

limbs/digits/tail

short humerus ( J:130212 )

• at day 20, humerus length is 94+/-1.2% of wild-type

• at day 50, humerus length is 93+/-0.7% of wild-type

craniofacial

decreased cranium length ( J:130212 )

• at day 30, the cranium length is reduced to 91% of wild-type