Phenotypes associated with this allele

• Allele Symbol: Adamts17^em1Dhch
• Allele Name: endonuclease-mediated mutation 1, Dirk Hubmacher
• Allele ID: MGI:8266943
• Summary: 5 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Adamts17^em1Dhch/Adamts17^em1Dhch	involves: C57BL/6	MGI:8266960
cx2	Adamts10^tm1Dgen/Adamts10^tm1Dgen Adamts17^em1Dhch/Adamts17^em1Dhch	involves: C57BL/6	MGI:8266961
cx3	Adamts10^tm1Dgen/Adamts10^+ Adamts17^em1Dhch/Adamts17^+	involves: C57BL/6	MGI:8322610
cx4	Adamts10^tm1Dgen/Adamts10^tm1Dgen Adamts17^em1Dhch/Adamts17^+	involves: C57BL/6	MGI:8322611
cx5	Adamts10^tm1Dgen/Adamts10^+ Adamts17^em1Dhch/Adamts17^em1Dhch	involves: C57BL/6	MGI:8322613

Genotype
MGI:8266960

hm1

• Allelic Composition: Adamts17^em1Dhch/Adamts17^em1Dhch
• Genetic Background: involves: C57BL/6

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

mortality/aging

mortality/aging ( J:373026 )

N • homozygotes obtained from single heterozygous intercrosses are born in expected Mendelian ratios and viable at P7-P10

skeleton

decreased length of long bones ( J:373026 )

• at 4 weeks of age, forelimb and hindlimb bones are significantly shorter than wild-type bones, except for the humerus, the first metacarpal, and the first metatarsal

short radius ( J:373026 )

• at 4 weeks of age, the length of the radius is significantly shorter than in wild-type controls

short ulna ( J:373026 )

• at 4 weeks of age, the length of the ulna is significantly shorter than in wild-type controls

short femur ( J:373026 )

• at 4 weeks of age, the length of the femur is significantly shorter than in wild-type controls

short fibula ( J:373026 )

• at 4 weeks of age, the length of the fibula is significantly shorter than in wild-type controls

short tibia ( J:373026 )

• at 4 weeks of age, the length of the tibia is significantly shorter than in wild-type controls

abnormal chondrocyte differentiation ( J:373026 )

• after 21 days in culture in osteogenic medium, isolated primary rib chondrocytes show significantly reduced alizarin red-positive calcium mineral deposition relative to wild-type chondrocytes

limbs/digits/tail

short radius ( J:373026 )

• at 4 weeks of age, the length of the radius is significantly shorter than in wild-type controls

short ulna ( J:373026 )

• at 4 weeks of age, the length of the ulna is significantly shorter than in wild-type controls

short femur ( J:373026 )

• at 4 weeks of age, the length of the femur is significantly shorter than in wild-type controls

short fibula ( J:373026 )

• at 4 weeks of age, the length of the fibula is significantly shorter than in wild-type controls

short tibia ( J:373026 )

• at 4 weeks of age, the length of the tibia is significantly shorter than in wild-type controls

integument

abnormal hypodermis muscle layer morphology ( J:373026 )

• at 4 weeks of age, the panniculus carnosus muscle underlying mouse skin is significantly thinner than in wild-type controls and individual Adamts10^tm1Dgen homozygotes

thin hypodermis ( J:373026 )

• hypodermis thickness is significantly less than in wild-type controls

• moreover, the proportion of the hypodermis to the overall skin thickness is reduced

thin dermal layer ( J:373026 )

• dermis thickness is significantly less than in wild-type controls

• of note, the proportion of the dermal layer to the overall skin thickness is increased

• however, epidermal layer thickness and hair follicle numbers are not significantly altered

thin skin ( J:373026 )

• at 4 weeks of age, overall thickness of dorsal skin is significantly less than in wild-type controls

muscle

abnormal hypodermis muscle layer morphology ( J:373026 )

• at 4 weeks of age, the panniculus carnosus muscle underlying mouse skin is significantly thinner than in wild-type controls and individual Adamts10^tm1Dgen homozygotes

cellular

abnormal extracellular matrix morphology ( J:373026 )

• isolated primary skin fibroblasts show an intermediate reduction of fibronectin and fibrillin-1 ECM deposition; instead of forming a normal fibrillar network, fibronectin is present in globular structures or short fibers on the cell surface or in the vicinity of fibroblasts

Genotype
MGI:8266961

cx2

• Allelic Composition: Adamts10^tm1Dgen/Adamts10^tm1Dgen; Adamts17^em1Dhch/Adamts17^em1Dhch
• Genetic Background: involves: C57BL/6

mortality/aging

decreased survivor rate ( J:373026 )

• double homozygotes exhibit a 50% survival rate at 23 days of age, with less than 20% surviving to 60 days of age

preweaning lethality, incomplete penetrance ( J:373026 )

• double homozygotes obtained from an intercross of double-heterozygous mice are present at significantly lower frequencies at P7-P10 (3.9% versus expected 6.25%)

postnatal lethality, incomplete penetrance ( J:373026 )

• Kaplan-Meier analysis indicates significant postnatal mortality with ~50% survival at 23 days after birth; cause of death is unknown

growth/size/body

decreased body height ( J:373026 )

• at 4 weeks of age, body weight is significantly lower than that in wild-type controls; however, after normalization of body weight to average femur length, this difference becomes nonsignificant, suggesting proportionate short stature

skeleton

increased diameter of humerus ( J:373026 )

• at 4 weeks of age, the mid-shaft width of the humerus is significantly greater than in wild-type controls and individual Adamts10^tm1Dgen or Adamts17^em1Dhch homozygotes

increased diameter of femur ( J:373026 )

• at 4 weeks of age, the mid-shaft width of the femur is significantly greater than in wild-type controls

decreased width of hypertrophic chondrocyte zone ( J:373026 )

• at 4 weeks of age, growth plates exhibit a narrower hypertrophic zone than that in wild-type controls

• however, the proliferative zone remains unchanged

disorganized long bone epiphyseal plate ( J:373026 )

• at 4 weeks of age, Massons trichrome indicates an overall disorganization of the growth plates characterized by normal collagen content but increased collagen intensity in the adjacent bone elements

• columnar organization of proliferating chondrocytes appears to be irregular with more spacing between chondrocyte columns

decreased length of long bones ( J:373026 )

• at 4 weeks of age, mice exhibit the shortest forelimb and hindlimb bones relative to wild-type controls and individual Adamts10^tm1Dgen or Adamts17^em1Dhch homozygotes

short humerus ( J:373026 )

• at 4 weeks of age, the length of the humerus is significantly shorter than in wild-type controls and individual Adamts10^tm1Dgen or Adamts17^em1Dhch homozygotes

short radius ( J:373026 )

• at 4 weeks of age, the length of the radius is significantly shorter than in wild-type controls and individual Adamts10^tm1Dgen or Adamts17^em1Dhch homozygotes

short ulna ( J:373026 )

• at 4 weeks of age, the length of the ulna is significantly shorter than in wild-type controls and individual Adamts10^tm1Dgen or Adamts17^em1Dhch homozygotes

short femur ( J:373026 )

• at 4 weeks of age, the length of the femur is significantly shorter than in wild-type controls and individual Adamts10^tm1Dgen or Adamts17^em1Dhch homozygotes

short fibula ( J:373026 )

• at 4 weeks of age, the length of the fibula is significantly shorter than in wild-type controls and individual Adamts10^tm1Dgen or Adamts17^em1Dhch homozygotes

short tibia ( J:373026 )

• at 4 weeks of age, the length of the tibia is significantly shorter than in wild-type controls and individual Adamts10^tm1Dgen or Adamts17^em1Dhch homozygotes

short metacarpal bones ( J:373026 )

• at 4 weeks of age, the length of the first metacarpal is significantly shorter than in wild-type controls and individual Adamts10^tm1Dgen or Adamts17^em1Dhch homozygotes

short metatarsal bones ( J:373026 )

• at 4 weeks of age, the length of the first metatarsal is significantly shorter than in wild-type controls and individual Adamts10^tm1Dgen or Adamts17^em1Dhch homozygotes

limbs/digits/tail

increased diameter of humerus ( J:373026 )

• at 4 weeks of age, the mid-shaft width of the humerus is significantly greater than in wild-type controls and individual Adamts10^tm1Dgen or Adamts17^em1Dhch homozygotes

short humerus ( J:373026 )

• at 4 weeks of age, the length of the humerus is significantly shorter than in wild-type controls and individual Adamts10^tm1Dgen or Adamts17^em1Dhch homozygotes

short radius ( J:373026 )

• at 4 weeks of age, the length of the radius is significantly shorter than in wild-type controls and individual Adamts10^tm1Dgen or Adamts17^em1Dhch homozygotes

short ulna ( J:373026 )

• at 4 weeks of age, the length of the ulna is significantly shorter than in wild-type controls and individual Adamts10^tm1Dgen or Adamts17^em1Dhch homozygotes

short femur ( J:373026 )

• at 4 weeks of age, the length of the femur is significantly shorter than in wild-type controls and individual Adamts10^tm1Dgen or Adamts17^em1Dhch homozygotes

increased diameter of femur ( J:373026 )

• at 4 weeks of age, the mid-shaft width of the femur is significantly greater than in wild-type controls

short fibula ( J:373026 )

• at 4 weeks of age, the length of the fibula is significantly shorter than in wild-type controls and individual Adamts10^tm1Dgen or Adamts17^em1Dhch homozygotes

short tibia ( J:373026 )

• at 4 weeks of age, the length of the tibia is significantly shorter than in wild-type controls and individual Adamts10^tm1Dgen or Adamts17^em1Dhch homozygotes

short metacarpal bones ( J:373026 )

• at 4 weeks of age, the length of the first metacarpal is significantly shorter than in wild-type controls and individual Adamts10^tm1Dgen or Adamts17^em1Dhch homozygotes

short metatarsal bones ( J:373026 )

• at 4 weeks of age, the length of the first metatarsal is significantly shorter than in wild-type controls and individual Adamts10^tm1Dgen or Adamts17^em1Dhch homozygotes

integument

abnormal hypodermis muscle layer morphology ( J:373026 )

• at 4 weeks of age, the panniculus carnosus muscle underlying mouse skin is significantly thinner than in wild-type controls and individual Adamts10^tm1Dgen homozygotes

• of note, the proportion of the panniculus carnosus muscle to the overall skin thickness is increased

thin hypodermis ( J:373026 )

• hypodermis thickness is severely reduced relative to wild-type controls and significantly less than in individual Adamts10^tm1Dgen or Adamts17^em1Dhch homozygotes

• moreover, the proportion of the hypodermis to the overall skin thickness is severely reduced

decreased hair follicle number ( J:373026 )

• at 4 weeks of age, the number of hair follicles is severely reduced relative to wild-type controls and significantly lower than in individual Adamts10^tm1Dgen or Adamts17^em1Dhch homozygotes

thin dermal layer ( J:373026 )

• dermis thickness is severely reduced relative to wild-type controls and significantly less than in individual Adamts10^tm1Dgen or Adamts17^em1Dhch homozygotes

• of note, the proportion of the dermis to the overall skin thickness is increased

thin epidermis ( J:373026 )

• epidermal layer thickness is slightly but significantly less than in wild-type controls and individual Adamts10^tm1Dgen homozygotes but not less than in Adamts17^em1Dhch homozygotes

thin skin ( J:373026 )

• at 4 weeks of age, overall thickness of dorsal skin is severely reduced relative to wild-type controls and significantly less than in individual Adamts10^tm1Dgen or Adamts17^em1Dhch homozygotes

decreased skin tensile strength ( J:373026 )

• at 4 weeks of age, skin is easily detached and ripped during routine handling (e.g. shaving), indicating skin fragility

muscle

abnormal hypodermis muscle layer morphology ( J:373026 )

• at 4 weeks of age, the panniculus carnosus muscle underlying mouse skin is significantly thinner than in wild-type controls and individual Adamts10^tm1Dgen homozygotes

• of note, the proportion of the panniculus carnosus muscle to the overall skin thickness is increased

cellular

abnormal extracellular matrix morphology ( J:373026 )

• isolated primary skin fibroblasts present at reduced cell numbers show severely impaired fibronectin deposition and thus failure to form an organized fibronectin network concomitant with abnormal intracellular accumulation of fibrillin-1

• lack of fibronectin and subsequently fibrillin-1 ECM deposition could be due to lower cell densities, as fibrillin-1 deposition is known to be dependent on cell density

Genotype
MGI:8322610

cx3

• Allelic Composition: Adamts10^tm1Dgen/Adamts10⁺; Adamts17^em1Dhch/Adamts17⁺
• Genetic Background: involves: C57BL/6

skeleton

skeleton phenotype ( J:373026 )

N • at 4 weeks of age, forelimb and hindlimb bones are not significantly shorter than wild-type bones

Genotype
MGI:8322611

cx4

• Allelic Composition: Adamts10^tm1Dgen/Adamts10^tm1Dgen; Adamts17^em1Dhch/Adamts17⁺
• Genetic Background: involves: C57BL/6

mortality/aging

preweaning lethality, incomplete penetrance ( J:373026 )

• only 6.7% (versus expected 12.5%) of mice are obtained from an intercross of double-heterozygous mice at P7-P10

growth/size/body

decreased body size ( J:373026 )

• at 4 weeks of age, mice are overtly smaller than wild-type controls, and show a further reduction in body size relative to individual Adamts10^tm1Dgen homozygotes

decreased body height ( J:373026 )

• at 4 weeks of age, body weight is significantly lower than that in wild-type controls; however, after normalization of body weight to average femur length, this difference becomes nonsignificant, suggesting proportionate short stature

skeleton

increased diameter of humerus ( J:373026 )

• at 4 weeks of age, the mid-shaft width of the humerus is significantly greater than in wild-type controls but not greater than in individual Adamts10^tm1Dgen or Adamts17^em1Dhch homozygotes

increased diameter of femur ( J:373026 )

• at 4 weeks of age, the mid-shaft width of the femur is significantly greater than in wild-type controls but not greater than in individual Adamts10^tm1Dgen or Adamts17^em1Dhch homozygotes

decreased length of long bones ( J:373026 )

• at 4 weeks of age, forelimb and hind limb bones exhibit exacerbated shortening except in the first metacarpal and the first metatarsal

short humerus ( J:373026 )

• at 4 weeks of age, the length of the humerus is significantly shorter than in wild-type controls and individual Adamts10^tm1Dgen homozygotes

short radius ( J:373026 )

• at 4 weeks of age, the length of the radius is significantly shorter than in wild-type controls and individual Adamts10^tm1Dgen homozygotes

short ulna ( J:373026 )

• at 4 weeks of age, the length of the ulna is significantly shorter than in wild-type controls and individual Adamts10^tm1Dgen homozygotes

short femur ( J:373026 )

• at 4 weeks of age, the length of the femur is significantly shorter than in wild-type controls and individual Adamts10^tm1Dgen or Adamts17^em1Dhch homozygotes

short fibula ( J:373026 )

• at 4 weeks of age, the length of the fibula is significantly shorter than in wild-type controls

short tibia ( J:373026 )

• at 4 weeks of age, the length of the tibia is significantly shorter than in wild-type controls and individual Adamts10^tm1Dgen homozygotes

limbs/digits/tail

increased diameter of humerus ( J:373026 )

• at 4 weeks of age, the mid-shaft width of the humerus is significantly greater than in wild-type controls but not greater than in individual Adamts10^tm1Dgen or Adamts17^em1Dhch homozygotes

short humerus ( J:373026 )

• at 4 weeks of age, the length of the humerus is significantly shorter than in wild-type controls and individual Adamts10^tm1Dgen homozygotes

short radius ( J:373026 )

• at 4 weeks of age, the length of the radius is significantly shorter than in wild-type controls and individual Adamts10^tm1Dgen homozygotes

short ulna ( J:373026 )

• at 4 weeks of age, the length of the ulna is significantly shorter than in wild-type controls and individual Adamts10^tm1Dgen homozygotes

short femur ( J:373026 )

• at 4 weeks of age, the length of the femur is significantly shorter than in wild-type controls and individual Adamts10^tm1Dgen or Adamts17^em1Dhch homozygotes

increased diameter of femur ( J:373026 )

• at 4 weeks of age, the mid-shaft width of the femur is significantly greater than in wild-type controls but not greater than in individual Adamts10^tm1Dgen or Adamts17^em1Dhch homozygotes

short fibula ( J:373026 )

• at 4 weeks of age, the length of the fibula is significantly shorter than in wild-type controls

short tibia ( J:373026 )

• at 4 weeks of age, the length of the tibia is significantly shorter than in wild-type controls and individual Adamts10^tm1Dgen homozygotes

Genotype
MGI:8322613

cx5

• Allelic Composition: Adamts10^tm1Dgen/Adamts10⁺; Adamts17^em1Dhch/Adamts17^em1Dhch
• Genetic Background: involves: C57BL/6

skeleton

decreased length of long bones ( J:373026 )

• at 4 weeks of age, forelimb and hindlimb bones exhibit significant shortening relative to wild-type bones, except in the humerus, fibula, the first metacarpal, and the first metatarsal

short radius ( J:373026 )

• at 4 weeks of age, the length of the radius is significantly shorter than in wild-type controls

short ulna ( J:373026 )

• at 4 weeks of age, the length of the ulna is significantly shorter than in wild-type controls

short femur ( J:373026 )

• at 4 weeks of age, the length of the femur is significantly shorter than in wild-type controls

short tibia ( J:373026 )

• at 4 weeks of age, the length of the tibia is significantly shorter than in wild-type controls

limbs/digits/tail

short radius ( J:373026 )

• at 4 weeks of age, the length of the radius is significantly shorter than in wild-type controls

short ulna ( J:373026 )

• at 4 weeks of age, the length of the ulna is significantly shorter than in wild-type controls

short femur ( J:373026 )

• at 4 weeks of age, the length of the femur is significantly shorter than in wild-type controls

short tibia ( J:373026 )

• at 4 weeks of age, the length of the tibia is significantly shorter than in wild-type controls