- 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 |
Citation information | RRID:IMSR_EM:01897 Research Resource Identifiers (RRID) are persistent unique ID numbers assigned to help researchers cite key resources (e.g. antibodies, model organisms and software projects) in the biomedical literature to improve transparency and reproducibility in research. See https://www.rrids.org/ for more information. |
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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