Release 56
(Apr 24, 2025)

QTL 222361 Description:

 Trait Information
Trait name: Epidermolysis bullosa susceptibility Vertebrate Trait Ontology: n/a
Reported name: (n/a) Product Trait Ontology: n/a
Symbol: EPIBUL Clinical Measurement Ontology: Disease process measurement
 QTL Map Information
Chromosome:11
QTL Peak Location:n/a
QTL Span:n/a
Upper, "Suggestive":n/a
Upper, "Significant":n/a
Peak:
Lower, "Significant":n/a
Lower, "Suggestive":n/a
Marker type:SNP
Analysis type:Association
Model tested:n/a
Test base:n/a
Threshold significance level:Significant
P_values<0.05
Dominance effect:n/a
Additive effect:n/a
Associated Gene:ITGB4 (integrin subunit beta 4)
Cis/Trans acting type:
Links:   Edit  |   Map view

 Extended information:
(none)

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  •  QTL Experiment in Brief
    Animals:Animals were Mouton Vendéen sheep.
     Breeds associated:
    Design:Whole-genome sequencing was performed on lambs affected and unaffected by epidermolysis bullosa to identify candidate mutations.
    Analysis:Variant analysis was performed for 13 candidate genes fitting with the mutation segregation hypothesis.
    Software:GATK
    Notes: 
    Links:Edit

     Reference
    Authors:Fabre S, Chantepie L, Plisson-Petit F, Sarry J, Woloszyn F, Genet C, Drouilhet L, Tosser-Klopp G
    Affiliation:GenPhySE, INRAE, INPT, ENVT, Université de Toulouse, 31326, Castanet-Tolosan Cedex, France
    Title:A novel homozygous nonsense mutation in ITGB4 gene causes epidermolysis bullosa in Mouton Vendéen sheep
    Journal:Animal Genetics, 2021, 52(1): 138-139
    Links:  PubMed  |  Abstract   |  List all data   |  Edit  
    User inputs on reference #33225458
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  • Cite this Data:

    Animal QTLdb: QTL222361 was published in 2021, and was curated into QTLdb on 2021-06-01. DBxREF link to this data: https://www.animalgenome.org/QTLdb/q?id=QTL_ID:222361

     

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