- abnormal auditory brainstem response / IMPC
- increased heart weight / IMPC
- enlarged ovary / IMPC
- abnormal liver morphology / IMPC
- enlarged cecum / IMPC
- enlarged liver / IMPC
- absent vibrissae / IMPC
- abnormal startle reflex / IMPC
- increased blood urea nitrogen level / IMPC
- preweaning lethality, incomplete penetrance / IMPC
C57BL/6J-Tbl1xr1em1H/H
| Status | Available to order |
| EMMA ID | EM:15688 |
| Citation information | RRID:IMSR_EM:15688 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 | C57BL/6J-Tbl1xr1em1H/H |
| Alternative name | C57BL/6J-Tbl1xr1 |
| Strain type | Endonuclease-mediated |
| Allele/Transgene symbol | Tbl1xr1em1H |
| Gene/Transgene symbol | Tbl1xr1 |
Information from provider
| Provider | Anita Boelen |
| Provider affiliation | Mary Lyon Centre at MRC Harwell |
| Genetic information | CRISPR generated. The aim of the project was to introduce the Y446C change by altering one nucleotide. A silent mutation was also incorporated into the design to prevent re-processing of the allele by CRISPR Cas9. The founder used to generate this line was genotyped as having the legitimately repaired Y446C allele, an illegitimately repaired allele (Silent mutation only) and a 7 nt deletion. |
| Phenotypic information | Homozygous:No abnormal phenotype reportedHeterozygous:No abnormal phenotype reported |
| Breeding history | Incepient congenic on maintained background |
| References | None available |
| Homozygous fertile | not known |
| Homozygous viable | not known |
| Homozygous matings required | not known |
| Immunocompromised | not known |
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
- Pierpont syndrome / Orphanet_487825
IMPC phenotypes (gene matching)
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