- abnormal skeleton morphology / MGI
- decreased bone mineral density / MGI
- abnormal trabecular bone morphology / MGI
- abnormal long bone epiphysis morphology / MGI
- abnormal long bone metaphysis morphology / MGI
- abnormal cartilage morphology / MGI
- abnormal cartilage development / MGI
- abnormal chondrocyte morphology / MGI
- short snout / MGI
- decreased body weight / MGI
- abnormal skeleton physiology / MGI
- abnormal skeleton development / MGI
- short tibia / MGI
- abnormal joint morphology / MGI
- short femur / MGI
- decreased width of hypertrophic chondrocyte zone / MGI
- delayed endochondral bone ossification / MGI
- abnormal bone structure / MGI
- increased compact bone thickness / MGI
- short humerus / MGI
- short ulna / MGI
- short lumbar vertebrae / MGI
- abnormal ulna morphology / MGI
- abnormal epiphyseal plate morphology / MGI
- disorganized long bone epiphyseal plate / MGI
- abnormal long bone epiphyseal ossification zone morphology / MGI
- abnormal joint mobility / MGI
- abnormal bone ossification / MGI
- decreased bone trabecula number / MGI
- decreased bone volume / MGI
- decreased trabecular bone volume / MGI
- abnormal limb long bone morphology / MGI
- short limbs / MGI
- cleft palate / MGI
- abnormal long bone epiphyseal plate proliferative zone / MGI
- decreased fetal size / MGI
- decreased length of long bones / MGI
- increased diameter of long bones / MGI
- perinatal lethality, complete penetrance / MGI
C3H;B6-Col2a1Lpk/H
Status | Available to order |
EMMA ID | EM:01897 |
International strain name | C3H;B6-Col2a1Lpk/H |
Alternative name | TM/29 |
Strain type | Induced Mutant Strains : Chemically-induced |
Allele/Transgene symbol | Col2a1Lpk |
Gene/Transgene symbol | Col2a1 |
Information from provider
Provider | Dr Martin Fray |
Provider affiliation | MRC Harwell, Didcot, Oxon |
Phenotypic information | Mice have short limbs (achondroplasia). Short-limbed phenotype in both fore- and to a lesser extent hind-limbs. |
References |
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Information from EMMA
Archiving centre | Mary Lyon Centre at MRC Harwell, Oxford, United Kingdom |
Disease and phenotype information
MGI allele-associated human disease models
Orphanet associated rare diseases, based on orthologous gene matching
- Spondyloepiphyseal dysplasia, Stanescu type / Orphanet_459051
- Kniest dysplasia / Orphanet_485
- Spondyloperipheral dysplasia-short ulna syndrome / Orphanet_1856
- Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis / Orphanet_93279
- Spondyloepimetaphyseal dysplasia congenita, Strudwick type / Orphanet_93346
- Stickler syndrome type 1 / Orphanet_90653
- Familial avascular necrosis of femoral head / Orphanet_86820
- Spondylometaphyseal dysplasia, Schmidt type / Orphanet_93316
- Platyspondylic dysplasia, Torrance type / Orphanet_85166
- Autosomal dominant rhegmatogenous retinal detachment / Orphanet_209867
- Multiple epiphyseal dysplasia, Beighton type / Orphanet_166011
- Dysspondyloenchondromatosis / Orphanet_85198
- Achondrogenesis type 2 / Orphanet_93296
- Hypochondrogenesis / Orphanet_93297
- Spondyloepiphyseal dysplasia congenita / Orphanet_94068
- Legg-Calvé-Perthes disease / Orphanet_2380
- Spondyloepiphyseal dysplasia with metatarsal shortening / Orphanet_137678
MGI phenotypes (allele matching)
Literature references
- A systematic, genome-wide, phenotype-driven mutagenesis programme for gene function studies in the mouse.;Nolan P M, Peters J, Strivens M, Rogers D, Hagan J, Spurr N, Gray I C, Vizor L, Brooker D, Whitehill E, Washbourne R, Hough T, Greenaway S, Hewitt M, Liu X, McCormack S, Pickford K, Selley R, Wells C, Tymowska-Lalanne Z, Roby P, Glenister P, Thornton C, Thaung C, Stevenson J A, Arkell R, Mburu P, Hardisty R, Kiernan A, Erven A, Steel K P, Voegeling S, Guenet J L, Nickols C, Sadri R, Nasse M, Isaacs A, Davies K, Browne M, Fisher E M, Martin J, Rastan S, Brown S D, Hunter J, ;2000;Nature genetics;25;440-3; 10932191
- A mouse model for spondyloepiphyseal dysplasia congenita with secondary osteoarthritis due to a Col2a1 mutation.;Esapa Christopher T, Hough Tertius A, Testori Sarah, Head Rosie A, Crane Elizabeth A, Chan Carol P S, Evans Holly, Bassett J H Duncan, Tylzanowski Przemko, McNally Eugene G, Carr Andrew J, Boyde Alan, Howell Peter G T, Clark Anne, Williams Graham R, Brown Matthew A, Croucher Peter I, Nesbit M Andrew, Brown Steve D M, Cox Roger D, Cheeseman Michael T, Thakker Rajesh V, ;2012;Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research;27;413-28; 22028304
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