- improved glucose tolerance / IMPC
- abnormal eye anterior chamber depth / IMPC
- decreased erythrocyte cell number / IMPC
- abnormal heart left ventricle morphology / IMPC
- increased circulating HDL cholesterol level / IMPC
- decreased lymphocyte cell number / IMPC
- increased mean corpuscular hemoglobin / IMPC
- increased circulating cholesterol level / IMPC
- increased circulating alanine transaminase level / IMPC
- increased circulating LDL cholesterol level / IMPC
- increased neutrophil cell number / IMPC
C57BL/6N-Phf8tm1.1Ics/Ics
Status | Available to order |
EMMA ID | EM:15623 |
International strain name | C57BL/6N-Phf8tm1.1Ics/Ics |
Alternative name | Phf8tm1.1Ics (G25) |
Strain type | Targeted Mutant Strains : Conditional mutation |
Allele/Transgene symbol | Phf8tm1.1Ics |
Gene/Transgene symbol | Phf8 |
Information from provider
Provider | ICS, Institut Clinique de la Souris |
Provider affiliation | ICS, Institut Clinique de la Souris |
Genetic information | This line was obtained by modification of TB1 in house derived C57BL/6N embryonic stem cells. Exon 7 (ENSMUSE00000246773) was floxed. The flipped NeoR cassette was removed by breeding the male chimeras with flp recombinase deleter females. The line was generated on a pure C57BL/6N inbred genetic background. For detailed information on the genetic description of this strain, please have a look at this report. |
Phenotypic information | Homozygous:viableHeterozygous:DOI: 10.3390/biomedicines10123148 |
Breeding history | Inbred C57BL/6N |
References |
|
Homozygous fertile | yes |
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
- X-linked intellectual disability, Siderius type / Orphanet_85287
IMPC phenotypes (gene matching)
Literature references
- Large-Scale Functional Assessment of Genes Involved in Rare Diseases with Intellectual Disabilities Unravels Unique Developmental and Behaviour Profiles in Mouse Models.;Meziane Hamid, Birling Marie-Christine, Wendling Olivia, Leblanc Sophie, Dubos Aline, Selloum Mohammed, Pavlovic Guillaume, Sorg Tania, Kalscheuer Vera M, Billuart Pierre, Laumonnier Frédéric, Chelly Jamel, van Bokhoven Hans, Herault Yann, ;2022;Biomedicines;10;; 36551904
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