MGI phenotypes (allele matching)
C57BL/6-Gfi1Gen/Orl
| Status | Available to order |
| EMMA ID | EM:05959 |
| International strain name | C57BL/6-Gfi1Gen/Orl |
| Alternative name | C57BL/6-Gfi |
| Strain type | Induced Mutant Strains : Chemically-induced |
| Allele/Transgene symbol | Gfi1Gen |
| Gene/Transgene symbol | Gfi1 |
Information from provider
| Provider | Marie Malissen |
| Provider affiliation | Centre D |
| Genetic information | The Genista mutation C57BL/6-Gfi1Gen converted the cysteine (C) residue normally found at position 318 of the third zinc finger domain of Gfi1 into a tyrosine (Y), thereby disrupting the Cys2His2 structural motif that constitutes the core component of zinc finger domains. The C318Y substitution present in Genista mice had no impact on the levels of expression of the mutated Gfi1C318Y protein. |
| Phenotypic information | Viable mouse model of neutropenia that resulted from a point mutation in the Gfi1 gene. The Genista mice differed from mice homozygous from a null allele of Gfi1 in that they showed a normal survival rate and no weight loss, and did not require to be kept under long-term antibiotic treatment. Therefore, Genista mice constitute a particularly tractable model of neutropenia. |
| Breeding history | ENU mutagenesis conducted on a C57BL/6 background. Mice are generally bred with homozygotes. Males crossed to heterozygote females. |
| References |
|
| Homozygous fertile | yes |
| Homozygous viable | yes |
| Homozygous matings required | no |
| Immunocompromised | yes |
Information from EMMA
| Archiving centre | Institut de Transgenose, INTRAGENE, Orléans, France |
| Animals used for archiving | homozygous C57BL/6J, wild-type C57BL/6J |
| Stage of embryos | 2-cell |
Disease and phenotype information
MGI allele-associated human disease models
Orphanet associated rare diseases, based on orthologous gene matching
- Autosomal dominant severe congenital neutropenia / Orphanet_486
MGI phenotypes (gene matching)
- organ of Corti degeneration / MGI
- increased monocyte cell number / MGI
- decreased neutrophil cell number / MGI
- decreased granulocyte number / MGI
- small thymus / MGI
- decreased thymocyte number / MGI
- decreased body weight / MGI
- decreased body size / MGI
- ataxia / MGI
- circling / MGI
- hyperactivity / MGI
- head bobbing / MGI
- abnormal myelopoiesis / MGI
- postnatal growth retardation / MGI
- thymus hypoplasia / MGI
- arrested T cell differentiation / MGI
- deafness / MGI
- premature death / MGI
- abnormal definitive hematopoiesis / MGI
- abnormal T cell differentiation / MGI
- abnormal lymphopoiesis / MGI
- abnormal monocyte morphology / MGI
- abnormal cochlear hair cell morphology / MGI
- abnormal vestibular hair cell morphology / MGI
- cochlear ganglion degeneration / MGI
- abnormal cytokine secretion / MGI
- abnormal mitosis / MGI
- increased vestibular hair cell number / MGI
- cochlear hair cell degeneration / MGI
- abnormal cochlear inner hair cell morphology / MGI
- cochlear inner hair cell degeneration / MGI
- abnormal cochlear outer hair cell morphology / MGI
- decreased cochlear outer hair cell number / MGI
- cochlear outer hair cell degeneration / MGI
- degeneration of organ of Corti supporting cells / MGI
- abnormal outer hair cell stereociliary bundle morphology / MGI
- absent outer hair cell stereocilia / MGI
- abnormal inner hair cell stereociliary bundle morphology / MGI
- short inner hair cell stereocilia / MGI
- abnormal cochlear hair cell development / MGI
- abnormal cochlear OHC efferent innervation pattern / MGI
- abnormal vestibular system physiology / MGI
- increased hematopoietic stem cell number / MGI
- decreased lymphocyte cell number / MGI
- decreased B cell number / MGI
- decreased T cell number / MGI
- abnormal neutrophil morphology / MGI
- decreased double-negative T cell number / MGI
- abnormal T cell proliferation / MGI
- head tilt / MGI
- immune system phenotype / MGI
- hematopoietic system phenotype / MGI
- absent pinna reflex / MGI
- absent startle reflex / MGI
- abnormal NK cell differentiation / MGI
- abnormal granulocyte differentiation / MGI
- abnormal monocyte differentiation / MGI
- increased tumor necrosis factor secretion / MGI
- increased interleukin-1 beta secretion / MGI
- increased interleukin-10 secretion / MGI
- increased susceptibility to endotoxin shock / MGI
- decreased NK cell degranulation / MGI
- abnormal NK cell physiology / MGI
- absent neutrophils / MGI
- increased or absent threshold for auditory brainstem response / MGI
Literature references
- A hypomorphic mutation in the Gfi1 transcriptional repressor results in a novel form of neutropenia.;Ordoñez-Rueda Diana, Jönsson Friederike, Mancardi David A, Zhao Weidong, Malzac Aurélie, Liang Yinming, Bertosio Elodie, Grenot Pierre, Blanquet Véronique, Sabrautzki Sybille, de Angelis Martin Hrabě, Méresse Stéphane, Duprez Estelle, Bruhns Pierre, Malissen Bernard, Malissen Marie, ;2012;European journal of immunology;42;2395-408; 22684987
- Neutrophil depletion impairs natural killer cell maturation, function, and homeostasis.;Jaeger Baptiste N, Donadieu Jean, Cognet Céline, Bernat Claire, Ordoñez-Rueda Diana, Barlogis Vincent, Mahlaoui Nizar, Fenis Aurore, Narni-Mancinelli Emilie, Beaupain Blandine, Bellanné-Chantelot Christine, Bajénoff Marc, Malissen Bernard, Malissen Marie, Vivier Eric, Ugolini Sophie, ;2012;The Journal of experimental medicine;209;565-80; 22393124