- abnormal branching of the mammary ductal tree / MGI
- abnormal mammary gland growth during pregnancy / MGI
- lethality throughout fetal growth and development, complete penetrance / MGI
- abnormal mammary duct terminal end bud morphology / MGI
- osteopetrosis / MGI
- increased leukocyte cell number / MGI
- increased neutrophil cell number / MGI
- abnormal skeleton physiology / MGI
- abnormal osteoclast physiology / MGI
- abnormal immune system physiology / MGI
- decreased inflammatory response / MGI
- premature death / MGI
- abnormal bone remodeling / MGI
- abnormal long bone epiphyseal plate morphology / MGI
- increased compact bone thickness / MGI
- abnormal long bone diaphysis morphology / MGI
- abnormal wound healing / MGI
- abnormal platelet physiology / MGI
- abnormal skeleton morphology / MGI
- increased bleeding time / MGI
- abnormal osteoclast differentiation / MGI
- impaired neutrophil recruitment / MGI
- impaired neutrophil chemotaxis / MGI
- abnormal nervous system electrophysiology / MGI
- abnormal pulmonary circulation / MGI
- increased vascular permeability / MGI
- increased susceptibility to ischemic brain injury / MGI
- increased cerebral infarction size / MGI
C.129S4(B6)-Gsntm1Djk/Cnrm
Status | Available to order |
EMMA ID | EM:09464 |
International strain name | C.129S4(B6)-Gsntm1Djk/Cnrm |
Alternative name | BalbC GSN KO |
Strain type | Targeted Mutant Strains : Knock-out |
Allele/Transgene symbol | Gsntm1Djk |
Gene/Transgene symbol | Gsn |
Information from provider
Provider | Walter Witke |
Provider affiliation | Institute of Genetics, University Bonn |
Genetic information | Gelsolin KO mutation crossed with mice of BALB/c inbred background. |
Phenotypic information | Homozygous:In the context of a BALB/c background, the Gsn(-/-) mutation causes embryonic death. A significant first reduction of null mutant embryos was observed by day 13.5. Few homozygous mutant embryos were present by 17.5-18.5 days of gestation and increased presence of resorbed embryos. Moreover, Gsn(-/-) embryos show defective erythroid maturation with persistence of circulating nucleated cells.Heterozygous:Heterozygous mice in a BALB/c background developed normally, were fertile and showed no obvious abnormalities. |
Breeding history | Mice with a C57BL/6 outbred background homozygous for the mutation were crossed with mice of BALB/c inbred background. Among the F1 animals, mice heterozygous for the mutation were selected by genotyping. These F1 animals were crossed with mice of BALB/c inbred background to produce F2 progeny, among which only mice heterozygous for the mutation were used for the next generation. The same cycle was repeated until F10 mice were obtained. Heterozygous F10 mice were crossed to produce mice homozygous for the mutation, with a genetic background very close to the BALB/c inbred background. |
References |
|
Homozygous fertile | no |
Homozygous viable | no |
Homozygous matings required | no |
Immunocompromised | no |
Information from EMMA
Archiving centre | CNR, Consiglio Nazionale delle Ricerche, Monterotondo, Italy |
Disease and phenotype information
Orphanet associated rare diseases, based on orthologous gene matching
- AGel amyloidosis / Orphanet_85448
MGI phenotypes (allele matching)
MGI phenotypes (gene matching)
- osteopetrosis / MGI
- increased leukocyte cell number / MGI
- increased neutrophil cell number / MGI
- abnormal branching of the mammary ductal tree / MGI
- abnormal skeleton physiology / MGI
- abnormal osteoclast physiology / MGI
- abnormal immune system physiology / MGI
- decreased inflammatory response / MGI
- premature death / MGI
- abnormal nervous system electrophysiology / MGI
- abnormal pulmonary circulation / MGI
- abnormal bone remodeling / MGI
- abnormal long bone epiphyseal plate morphology / MGI
- increased vascular permeability / MGI
- increased susceptibility to ischemic brain injury / MGI
- increased compact bone thickness / MGI
- abnormal long bone diaphysis morphology / MGI
- abnormal wound healing / MGI
- abnormal platelet physiology / MGI
- abnormal skeleton morphology / MGI
- increased bleeding time / MGI
- increased cerebral infarction size / MGI
- abnormal mammary gland growth during pregnancy / MGI
- abnormal osteoclast differentiation / MGI
- impaired neutrophil recruitment / MGI
- impaired neutrophil chemotaxis / MGI
- lethality throughout fetal growth and development, complete penetrance / MGI
- abnormal mammary duct terminal end bud morphology / MGI
Literature references
- Defective erythroid maturation in gelsolin mutant mice.;Cantù Claudio, Bosè Francesca, Bianchi Paola, Reali Eva, Colzani Maria Teresa, Cantù Ileana, Barbarani Gloria, Ottolenghi Sergio, Witke Walter, Spinardi Laura, Ronchi Antonella Ellena, ;2012;Haematologica;97;980-8; 22271892
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