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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Acancmd
cartilage matrix deficiency
MGI:1856465
Summary 3 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Acancmd/Acancmd involves: STOCK T tlow Itpr3tf MGI:3694235
hm2
Acancmd/Acancmd STOCK T tlow Itpr3tf MGI:3694230
ht3
Acancmd/Acan+ involves: STOCK T tlow Itpr3tf MGI:2675624


Genotype
MGI:3694235
hm1
Allelic
Composition
Acancmd/Acancmd
Genetic
Background
involves: STOCK T tlow Itpr3tf
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Acancmd mutation (1 available); any Acan mutation (6 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• die due to breathing failure just after birth (J:553)
• die due to breathing failure just after birth (J:553)

hearing/vestibular/ear
• in organ of Corti, high density cystic formations are observed in Nuel's space and the tunnel of Corti (J:553)
• in organ of Corti, high density cystic formations are observed in Nuel's space and the tunnel of Corti (J:553)
• hair cells are absent in the first cochlear turn and in organ of Corti (J:553)
• hair cells are absent in the first cochlear turn and in organ of Corti (J:553)
• hair cells are fused (J:553)
• hair cells are fused (J:553)
• no nerve fibers or nerve endings are observed in the first cochlear turn (J:553)
• no nerve fibers or nerve endings are observed in the first cochlear turn (J:553)
• responses can not be evoked with stimuli under 80 db (J:553)
• responses can not be evoked with stimuli under 80 db (J:553)
• homozygotes display marked hearing loss (J:553)
• homozygotes display marked hearing loss (J:553)

growth/size/body
• thoracic cavity volume is decreased by 38% (J:23353)
• thoracic cavity volume is decreased by 38% (J:23353)
• disproportionate, dwarfed stature (J:553)
• short trunks, limbs, tails, snout (J:553)
• disproportionate, dwarfed stature (J:553)
• short trunks, limbs, tails, snout (J:553)

homeostasis/metabolism
• volume of amniotic fluid is 8 times greater in mutants on E18 (J:23353)
• volume of amniotic fluid is 8 times greater in mutants on E18 (J:23353)

respiratory system
• at E18, primary saccules are more numerous, appear compressed and parenchymal cells are less organized (J:23353)
• at E18, primary saccules are more numerous, appear compressed and parenchymal cells are less organized (J:23353)
• at E18, lungs are smaller than wild-type but normal in shape (J:23353)
• at E18, lungs are smaller than wild-type but normal in shape (J:23353)

nervous system
• hair cells are absent in the first cochlear turn and in organ of Corti (J:553)
• hair cells are absent in the first cochlear turn and in organ of Corti (J:553)
• hair cells are fused (J:553)
• hair cells are fused (J:553)
• no nerve fibers or nerve endings are observed in the first cochlear turn (J:553)
• no nerve fibers or nerve endings are observed in the first cochlear turn (J:553)

craniofacial

digestive/alimentary system

skeleton
• abnormally high fibronectin production by chrondrocytes results in aberrant cartilage (J:1535)
• in chondrocyte cultures, the defects in the cartilage produced can be ameliorated by the addition of cartilage proteoglycan monomer (J:1535)
• abnormally high fibronectin production by chrondrocytes results in aberrant cartilage (J:1535)
• in chondrocyte cultures, the defects in the cartilage produced can be ameliorated by the addition of cartilage proteoglycan monomer (J:1535)

Mouse Models of Human Disease
OMIM ID Ref(s)
Achondroplasia; ACH 100800 J:5952 , J:30795




Genotype
MGI:3694230
hm2
Allelic
Composition
Acancmd/Acancmd
Genetic
Background
STOCK T tlow Itpr3tf
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Acancmd mutation (1 available); any Acan mutation (6 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• homozygotes are born alive, but die shortly after birth due to inability to breathe (J:5952)
• homozygotes are born alive, but die shortly after birth due to inability to breathe (J:5952)

growth/size/body
• snout is short and blunted (J:5952)
• snout is short and blunted (J:5952)
• noted at birth (J:30795)
• noted at birth (J:30795)
• abdomen is strikingly protruberant (J:5952)
• abdomen is strikingly protruberant (J:5952)
• newborns display distended abdomens (J:30795)
• newborns display distended abdomens (J:30795)

craniofacial
• facial bones are reduced in antero-posterior length at E18 (J:30795)
• facial bones are reduced in antero-posterior length at E18 (J:30795)
• cranial base is reduced in antero-posterior length at E18 (J:30795)
• cranial base is reduced in antero-posterior length at E18 (J:30795)
• snout is short and blunted (J:5952)
• snout is short and blunted (J:5952)

skeleton
• facial bones are reduced in antero-posterior length at E18 (J:30795)
• facial bones are reduced in antero-posterior length at E18 (J:30795)
• cranial base is reduced in antero-posterior length at E18 (J:30795)
• cranial base is reduced in antero-posterior length at E18 (J:30795)
• chondrocytes are tightly packed, there is very little matrix and many pyknotic cells, which often contain vacuoles (J:5952)
• chondrocytes are tightly packed, there is very little matrix and many pyknotic cells, which often contain vacuoles (J:5952)
• long bones are reduced to >50% of normal length (J:5952)
• long bones are reduced to >50% of normal length (J:5952)
• ribs are short and blunted at E18 (J:30795)
• ribs are short and blunted at E18 (J:30795)
• three calcification centers (one in vertebral body, one in each half of vertebral arch) are joined except in most posterior calcified vertebrae while these centers are well defined in the wild-type vertebrae (J:5952)
• three calcification centers (one in vertebral body, one in each half of vertebral arch) are joined except in most posterior calcified vertebrae while these centers are well defined in the wild-type vertebrae (J:5952)
• number of tail vertebrae is reduced at E18 (J:30795)
• number of tail vertebrae is reduced at E18 (J:30795)
• spinal column is shortened by ~25% (mutants 15.4 mm vs wild-type 21.4 mm in length) (J:5952)
• spinal column is shortened by ~25% (mutants 15.4 mm vs wild-type 21.4 mm in length) (J:5952)
• axial skeleton is shortened at E18 (J:30795)
• axial skeleton is shortened at E18 (J:30795)
• in E16 mutants, spongy bone is present throughout the width of the bone shaft, whereas in wild-type, it is confined to periosteum (J:30795)
• in E16 mutants, spongy bone is present throughout the width of the bone shaft, whereas in wild-type, it is confined to periosteum (J:30795)
• cartilage shows reduced growth rate starting at ~E13 (J:30795)
• cartilage in all parts of skeleton is abnormal by E14 (J:30795)
• cartilage shows reduced growth rate starting at ~E13 (J:30795)
• cartilage in all parts of skeleton is abnormal by E14 (J:30795)
• mutant cells have few short and blunt cytoplasmic processes (J:5952)
• mutant cells have few short and blunt cytoplasmic processes (J:5952)
• in E16 limb bones, chondrocytes start to undergo degenerative changes (J:30795)
• in E16 limb bones, chondrocytes start to undergo degenerative changes (J:30795)

limbs/digits/tail
• mutants can be identified by E15 because of shortened limbs (J:30795)
• in E18 mutants, limb girdles and long bones are ~half of normal size (J:30795)
• mutants can be identified by E15 because of shortened limbs (J:30795)
• in E18 mutants, limb girdles and long bones are ~half of normal size (J:30795)
• number of tail vertebrae is reduced at E18 (J:30795)
• number of tail vertebrae is reduced at E18 (J:30795)

liver/biliary system
• in newborns, and to lesser extent in embryos, livers are darker than normal (J:5952)
• in newborns, and to lesser extent in embryos, livers are darker than normal (J:5952)
• liver is enlarged, likely due to congestion with blood (J:5952)
• liver is enlarged, likely due to congestion with blood (J:5952)

respiratory system
• chondrocytes are tightly packed, there is very little matrix and many pyknotic cells, which often contain vacuoles (J:5952)
• chondrocytes are tightly packed, there is very little matrix and many pyknotic cells, which often contain vacuoles (J:5952)

digestive/alimentary system




Genotype
MGI:2675624
ht3
Allelic
Composition
Acancmd/Acan+
Genetic
Background
involves: STOCK T tlow Itpr3tf
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Acancmd mutation (1 available); any Acan mutation (6 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Radiographs of wild-type and Acancmd/Acan+ mice

mortality/aging
• no heterozygotes live longer than 19 months (J:41498)
• no heterozygotes live longer than 19 months (J:41498)

growth/size/body
• slight dwarfism seen about 28 days after birth (J:41498)
• slight dwarfism seen about 28 days after birth (J:41498)

behavior/neurological
• mutants cannot eat and starve within 1 month of developing the abnormal gait (J:41498)
• mutants cannot eat and starve within 1 month of developing the abnormal gait (J:41498)
• develop spastic gait and show decreased movement with sudden onset (J:41498)
• develop spastic gait and show decreased movement with sudden onset (J:41498)

nervous system
• oppression of the spinal cord by herniated disk (J:41498)
• oppression of the spinal cord by herniated disk (J:41498)

skeleton
• herniation of vertebral disks (J:41498)
• herniation of vertebral disks (J:41498)
• the chondrocytes of vertebral disks show degeneration and are abnormally packed and the extracellular matrix shows concentric dense bundle patterns instead of a fine diffuse pattern (J:41498)
• the chondrocytes of vertebral disks show degeneration and are abnormally packed and the extracellular matrix shows concentric dense bundle patterns instead of a fine diffuse pattern (J:41498)
• in the thoraco-lumbar spine (J:41498)
• in the thoraco-lumbar spine (J:41498)
• in the cervical spine (J:41498)
• in the cervical spine (J:41498)
• disappearance of apophyseal cartilage and deformation of vertebral bodies (J:41498)
• disappearance of apophyseal cartilage and deformation of vertebral bodies (J:41498)





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last database update
02/02/2016
MGI 6.02
The Jackson Laboratory