- abnormal eye morphology / IMPC
- decreased mean corpuscular hemoglobin concentration / IMPC
- preweaning lethality, complete penetrance / IMPC
- increased grip strength / IMPC
- decreased red blood cell distribution width / IMPC
- embryonic lethality prior to organogenesis / IMPC
- abnormal embryo size / IMPC
- anophthalmia / IMPC
- embryonic lethality prior to tooth bud stage / IMPC
- abnormal tooth morphology / IMPC
- abnormal maxilla morphology / IMPC
B6.Cg-Chd1tm1.1Alsr/Biat
| Status | Available to order |
| EMMA ID | EM:10600 |
| Citation information | RRID:IMSR_EM:10600 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.Cg-Chd1tm1.1Alsr/Biat |
| Alternative name | Chd1[delta2/delta2] |
| Strain type | Targeted Mutant Strains : Conditional mutation |
| Allele/Transgene symbol | Chd1tm1.1Alsr |
| Gene/Transgene symbol | Chd1 |
Information from provider
| Provider | Alexandra Lusser |
| Provider affiliation | Division of Molecular Biology, Biocenter, Medical University of Innsbruck |
| Genetic information | Deletion of exon 2 of the Chd1 gene resulting in an N-terminally truncated protein. |
| Phenotypic information | Homozygous:The homozygous deletion Chd1[delta2/delta2] gives rise to an N-terminally truncated protein of the chromatin remodeling and assembly factor Chd1. In general the mice appear normal and healthy and they are fertile. However, they exhibit a memory deficit (not yet published). Moreover, ex vivo culture of mutant ESCs results in compromised ESC differentiation (see Piatti et al., 2015).Heterozygous:Normal and healthy. |
| Breeding history | Chimeras were crossed to albino-B6 mice. Offspring was backcrossed to C57BL/6NCrl for 3 times. Heterozygous floxed animals were intercrossed and homozygous floxed offspring was crossed to Ubi-cre deleter strain. Heterozygous Chd1[delta2/flox] were intercrossed to remove cre and to obtain homozygous Chd1[delta2/delta2]. Homozygous mice were maintained for 8 generations and then backcrossed to C57BL/6NCrl. Homozygous animals were again obtained by intercrosses for 3 generations. |
| References |
|
| Homozygous fertile | yes |
| Homozygous viable | yes |
| Homozygous matings required | no |
| Immunocompromised | no |
Information from EMMA
| Archiving centre | University of Veterinary Medicine, Vienna, Austria |
| Animals used for archiving | heterozygous Other (please specify below) males |
Disease and phenotype information
Orphanet associated rare diseases, based on orthologous gene matching
- Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome / Orphanet_529965
IMPC phenotypes (gene matching)
MGI phenotypes (gene matching)
- abnormal embryo development / MGI
- abnormal mesoderm development / MGI
- failure to gastrulate / MGI
- decreased embryo size / MGI
- abnormal developmental patterning / MGI
- no abnormal phenotype detected / MGI
- absent extraembryonic ectoderm / MGI
- no phenotypic analysis / MGI
- abnormal cell cycle / MGI
- abnormal rostral-caudal axis patterning / MGI
- embryonic lethality, complete penetrance / MGI
- small embryonic epiblast / MGI
- increased embryonic epiblast cell apoptosis / MGI
- absent anterior visceral endoderm / MGI
Literature references
- Embryonic stem cell differentiation requires full length Chd1.;Piatti Paolo, Lim Chin Yan, Nat Roxana, Villunger Andreas, Geley Stephan, Shue Yan Ting, Soratroi Claudia, Moser Markus, Lusser Alexandra, ;2015;Scientific reports;5;8007; 25620209
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