- abnormal intestinal epithelium morphology / MGI
- abnormal hair cell mechanoelectric transduction / MGI
- thin cochlear hair cell stereocilia / MGI
- abnormal outer hair cell stereociliary bundle morphology / MGI
- fused outer hair cell stereocilia / MGI
- abnormal inner hair cell stereociliary bundle morphology / MGI
- decreased inner hair cell stereocilia number / MGI
- short inner hair cell stereocilia / MGI
- homeostasis/metabolism phenotype / MGI
- growth/size/body region phenotype / MGI
- behavior/neurological phenotype / MGI
- reproductive system phenotype / MGI
- impaired hearing / MGI
- decreased small intestinal microvillus size / MGI
- increased susceptibility to induced colitis / MGI
- increased enterocyte apoptosis / MGI
- abnormal intestine physiology / MGI
- mortality/aging / MGI
- increased or absent threshold for auditory brainstem response / MGI
- increased susceptibility to colitis induced morbidity/mortality / MGI
B6.129-Pls1tm1Fri/Cnbc
Status | Available to order |
EMMA ID | EM:04841 |
International strain name | B6.129-Pls1tm1Fri/Cnbc |
Alternative name | Pls1 null |
Strain type | Targeted Mutant Strains : Knock-out |
Allele/Transgene symbol | Pls1tm1Fri |
Gene/Transgene symbol | Pls1 |
Information from provider
Provider | Francisco Rivero |
Provider affiliation | Hull York Medical School, University of Hull |
Genetic information | Conventional target (knockout) of the Pls1 locus, encoding plastin 1 (I-plastin). The first coding exon was replaced by a neomycin cassette. |
Phenotypic information | No overt gross phenotype. Normal intestinal microanatomy, but ultrastructural alterations: microvilli are shorter and constricted at their base, and their core actin bundles lack true rootlets. The composition of the microvilli themselves is apparently normal, whereas that of the terminal web is profoundly altered. The alterations result in increased fragility of the epithelium. This is seen as an increased sensitivity of the brush border to biochemical manipulations, decreased transepithelial resistance and increased sensitivity to dextran sodium sulfate-induced colitis. |
Breeding history | Animals are currently inbred homozygous on the second generation since embryo resurrection. Frozen embryos were prepared from animals backcrossed into C57BL/6 for four generations. Animals are bred in pairs and trios successfully. |
References | None available |
Homozygous fertile | yes |
Homozygous viable | yes |
Homozygous matings required | no |
Immunocompromised | no |
Information from EMMA
Archiving centre | CNB-CSIC, Centro Nacional de Biotecnologia, Madrid, Spain |
Animals used for archiving | homozygous C57BL/6JOlaHsd, wild-type C57BL/6JOlaHsd |
Stage of embryos | 8-cell |
Disease and phenotype information
Orphanet associated rare diseases, based on orthologous gene matching
- Autosomal dominant non-syndromic sensorineural deafness type DFNA / Orphanet_90635
MGI phenotypes (allele matching)
MGI phenotypes (gene matching)
- abnormal intestinal epithelium morphology / MGI
- abnormal hair cell mechanoelectric transduction / MGI
- thin cochlear hair cell stereocilia / MGI
- abnormal outer hair cell stereociliary bundle morphology / MGI
- fused outer hair cell stereocilia / MGI
- abnormal inner hair cell stereociliary bundle morphology / MGI
- decreased inner hair cell stereocilia number / MGI
- short inner hair cell stereocilia / MGI
- homeostasis/metabolism phenotype / MGI
- growth/size/body region phenotype / MGI
- behavior/neurological phenotype / MGI
- reproductive system phenotype / MGI
- impaired hearing / MGI
- decreased small intestinal microvillus size / MGI
- increased susceptibility to induced colitis / MGI
- increased enterocyte apoptosis / MGI
- abnormal intestine physiology / MGI
- mortality/aging / MGI
- increased or absent threshold for auditory brainstem response / MGI
- increased susceptibility to colitis induced morbidity/mortality / MGI
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