- abnormal retina blood vessel morphology / IMPC
- preweaning lethality, complete penetrance / IMPC
- abnormal lens morphology / IMPC
- increased circulating HDL cholesterol level / IMPC
- decreased red blood cell distribution width / IMPC
- increased startle reflex / IMPC
- decreased circulating chloride level / IMPC
- abnormal retina vasculature morphology / IMPC
C57BL/6N-Zbtb24tm1.1Ics/Ics
| Status | Available to order |
| EMMA ID | EM:16204 |
| Citation information | RRID:IMSR_EM:16204 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/6N-Zbtb24tm1.1Ics/Ics |
| Alternative name | Zbtb24tm1.1Ics/Ics |
| Strain type | Targeted Mutant Strains : Point mutation |
| Allele/Transgene symbol | Zbtb24tm1.1Ics |
| Gene/Transgene symbol | Zbtb24 |
Information from provider
| Provider | Claire Francastel |
| Provider affiliation | Bâtiment Lamarck B, UMR 7216 – Épigénétique et Destin Cellulaire |
| Genetic information | Two nucleotides (TA) were deleted from histidine codon 132 and serine codon 133 (CAtaGC) (c.396_397del) in exon 2, leading to a frameshift and premature stop codon (p.H132Qfs*21). A loxP site-flanked neo resistance gene and protamine promotor-driven cre gene cassette were inserted into and auto-excised from intron 2. The mutation is the equivalent of a human mutation associated with ICF2 syndrome (Immunodeficiency with Centromeric instability and Facial anomalies 2; OMIM #614069). |
| Phenotypic information | Homozygous:N/AHeterozygous:N/A |
| Breeding history | C57BL/6NCrl 75%, C57BL/6NTac 25% |
| References |
|
| Homozygous fertile | not known |
| Homozygous viable | yes |
| Homozygous matings required | no |
| Immunocompromised | no |
Information from EMMA
| Archiving centre | ICS, Institut Clinique de la Souris, Illkirch-Graffenstaden, France |
Disease and phenotype information
Orphanet associated rare diseases, based on orthologous gene matching
- ICF syndrome / Orphanet_2268
IMPC phenotypes (gene matching)
MGI phenotypes (gene matching)
- embryonic lethality between implantation and placentation, complete penetrance / MGI
Literature references
- ZBTB24 is a conserved multifaceted transcription factor at genes and centromeres that governs the DNA methylation state and expression of satellite repeats.;Grillo Giacomo, Boyarchuk Ekaterina, Mihic Seed, Ivkovic Ivana, Bertrand Mathilde, Jouneau Alice, Dahlet Thomas, Dumas Michael, Weber Michael, Velasco Guillaume, Francastel Claire, ;2025;Human molecular genetics;34;161-177; 39562305
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