- cleft palate / MGI
- abnormal sternum morphology / MGI
- absent kidney / MGI
- polydactyly / MGI
- abnormal lung morphology / MGI
- decreased body length / MGI
- respiratory failure / MGI
- abnormal skeleton development / MGI
- abnormal bone mineralization / MGI
- curly tail / MGI
- abnormal thoracic cage morphology / MGI
- abnormal phalanx morphology / MGI
- absent tarsus bones / MGI
- iris coloboma / MGI
- abnormal pulmonary alveolus wall morphology / MGI
- neonatal lethality, complete penetrance / MGI
B6.129-Glcetm1Jpli/Kctt
| Status | Available to order |
| EMMA ID | EM:05825 |
| Citation information | RRID:IMSR_EM:05825 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 | B6.129-Glcetm1Jpli/Kctt |
| Alternative name | Hsepi-KO |
| Strain type | Targeted Mutant Strains : Knock-out |
| Allele/Transgene symbol | Glcetm1Jpli |
| Gene/Transgene symbol | Glce |
Information from provider
| Provider | Jin-Ping Li |
| Provider affiliation | Medical Biochemistry and Microbiology |
| Genetic information | See Li et al. 2003 (JBC). |
| Phenotypic information | Homozygous neonatal lethal. Multiple development defects described in literature references. |
| Breeding history | Cross-bred to C57BL/6 for 10 generations. |
| References |
|
| Homozygous fertile | not known |
| Homozygous viable | no |
| Homozygous matings required | no |
| Immunocompromised | no |
Information from EMMA
| Archiving centre | Karolinska Institutet, Stockholm, Sweden |
Disease and phenotype information
MGI phenotypes (allele matching)
MGI phenotypes (gene matching)
- cleft palate / MGI
- abnormal sternum morphology / MGI
- absent kidney / MGI
- polydactyly / MGI
- abnormal lung morphology / MGI
- decreased body length / MGI
- respiratory failure / MGI
- abnormal skeleton development / MGI
- abnormal bone mineralization / MGI
- curly tail / MGI
- abnormal thoracic cage morphology / MGI
- abnormal phalanx morphology / MGI
- absent tarsus bones / MGI
- iris coloboma / MGI
- abnormal pulmonary alveolus wall morphology / MGI
- neonatal lethality, complete penetrance / MGI
Literature references
- Disruption of heparan sulfate proteoglycan conformation perturbs B-cell maturation and APRIL-mediated plasma cell survival.;Reijmers Rogier M, Groen Richard W J, Kuil Annemieke, Weijer Kees, Kimberley Fiona C, Medema Jan Paul, van Kuppevelt Toin H, Li Jin-Ping, Spaargaren Marcel, Pals Steven T, ;2011;Blood;117;6162-71; 21471524
- Lack of L-iduronic acid in heparan sulfate affects interaction with growth factors and cell signaling.;Jia Juan, Maccarana Marco, Zhang Xiao, Bespalov Maxim, Lindahl Ulf, Li Jin-Ping, ;2009;The Journal of biological chemistry;284;15942-50; 19336402
- Impaired lymphoid organ development in mice lacking the heparan sulfate modifying enzyme glucuronyl C5-epimerase.;Reijmers Rogier M, Vondenhoff Mark F R, Roozendaal Ramon, Kuil Annemieke, Li Jin-Ping, Spaargaren Marcel, Pals Steven T, Mebius Reina E, ;2010;Journal of immunology (Baltimore, Md. : 1950);184;3656-64; 20208005
- Targeted disruption of a murine glucuronyl C5-epimerase gene results in heparan sulfate lacking L-iduronic acid and in neonatal lethality.;Li Jin-Ping, Gong Feng, Hagner-McWhirter Asa, Forsberg Erik, Abrink Magnus, Kisilevsky Robert, Zhang Xiao, Lindahl Ulf, ;2003;The Journal of biological chemistry;278;28363-6; 12788935
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