C3H;B6-Col2a1Lpk/H

Status

Available to order

EMMA IDEM:01897
International strain nameC3H;B6-Col2a1Lpk/H
Alternative nameTM/29
Strain typeInduced Mutant Strains : Chemically-induced
Allele/Transgene symbolCol2a1Lpk
Gene/Transgene symbolCol2a1

Information from provider

ProviderDr Martin Fray
Provider affiliationMRC Harwell, Didcot, Oxon
Phenotypic informationMice have short limbs (achondroplasia). Short-limbed phenotype in both fore- and to a lesser extent hind-limbs.
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

Information from EMMA

Archiving centreMary 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

MGI phenotypes (allele matching)
  • 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

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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Order

Availabilities

Requesting frozen sperm or embryos is generally advisable wherever possible, in order to minimise the shipment of live mice.

  • Frozen sperm. Delivered in 4 weeks (after paperwork in place). €1740*
  • Rederivation of mice from frozen stock, delivery time available upon request . €3880*
  • Tissue - Types of tissue, service fee and delivery time available upon request

Due to the dynamic nature of our processes strain availability may change at short notice. The local repository manager will advise you in these circumstances.

* In addition users have to cover all the shipping costs (including the cost for returning dry-shippers, where applicable).

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