B6;129P2-Zic1Gln389*/H
| Status | Available to order |
| EMMA ID | EM:13084 |
| Citation information | RRID:IMSR_EM:13084 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;129P2-Zic1Gln389*/H |
| Alternative name | Zic1Gln389* |
| Strain type | Targeted Mutant Strains : Point mutation |
| Allele/Transgene symbol | Zic1tm1p.Gln389* |
| Gene/Transgene symbol | Zic1 |
Information from provider
| Provider | Stephen Twigg |
| Provider affiliation | The MRC Weatherall Institute of Molecular Medicine |
| Genetic information | Nonsense mutation in Zic1 gene (c.1165C>T encoding p.Gln389∗). |
| Phenotypic information | Homozygous:Signs of craniosynostosis in homozygous (fusion of coronal suture).Heterozygous:Heterozygous mice (coronal suture rearrangements). |
| Breeding history | Founder line: M00388563 (chimeric founder line) Zic1 chimera No.2 D1 stop. Original genetic background: E14Tg2aIV, 129P2/OlaHsd. Current genetic background: C57BL/6. |
| References |
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| Homozygous fertile | not known |
| Homozygous viable | yes |
| Homozygous matings required | no |
| Immunocompromised | no |
Information from EMMA
| Archiving centre | Mary Lyon Centre at MRC Harwell, Oxford, United Kingdom |
Disease and phenotype information
Orphanet associated rare diseases, based on orthologous gene matching
- Non-syndromic bicoronal craniosynostosis / Orphanet_35099
- Isolated oxycephaly / Orphanet_63440
- Isolated plagiocephaly / Orphanet_35098
Literature references
- Gain-of-Function Mutations in ZIC1 Are Associated with Coronal Craniosynostosis and Learning Disability.;Twigg Stephen R F, Forecki Jennifer, Goos Jacqueline A C, Richardson Ivy C A, Hoogeboom A Jeannette M, van den Ouweland Ans M W, Swagemakers Sigrid M A, Lequin Maarten H, Van Antwerp Daniel, McGowan Simon J, Westbury Isabelle, Miller Kerry A, Wall Steven A, null null, van der Spek Peter J, Mathijssen Irene M J, Pauws Erwin, Merzdorf Christa S, Wilkie Andrew O M, ;2015;American journal of human genetics;97;378-88; 26340333