GEPHE SUMMARY
Gephebase Gene
Entry Status
Published
GepheID
GP00001729
Main curator
Courtier
PHENOTYPIC CHANGE
Trait Category
Trait State in Taxon A
Rattus norvegicus - various breeds
Trait State in Taxon B
Rattus norvegicus - Rex strain KFRS5A/Kyo - curly hair (heteroygous mutant) or hairless (homozygous mutant)
Ancestral State
Taxon A
Taxonomic Status
Taxon A
Common Name
Norway rat
Synonyms
rat; rats; Norway rat; brown rat; Rattus norvegicus8; Rattus norwegicus
Rank
species
Lineage
Show more ... omi; Euteleostomi; Sarcopterygii; Dipnotetrapodomorpha; Tetrapoda; Amniota; Mammalia; Theria; Eutheria; Boreoeutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
NCBI Taxonomy ID
is Taxon A an Infraspecies?
No
Taxon B
Common Name
Norway rat
Synonyms
rat; rats; Norway rat; brown rat; Rattus norvegicus8; Rattus norwegicus
Rank
species
Lineage
Show more ... omi; Euteleostomi; Sarcopterygii; Dipnotetrapodomorpha; Tetrapoda; Amniota; Mammalia; Theria; Eutheria; Boreoeutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
NCBI Taxonomy ID
is Taxon B an Infraspecies?
No
GENOTYPIC CHANGE
Generic Gene Name
Krt71
Synonyms
Ca; Cu; Cal4; mK6irs; Krt2-6g; mK6irs1; AA589543; K6irs1; Kb34; Krt6g
Sequence Similarities
Belongs to the intermediate filament family.
UniProtKB
Mus musculus
GenebankID or UniProtKB
Presumptive Null
Yes
Molecular Type
Aberration Type
Deletion Size
1-9 bp
Molecular Details of the Mutation
a 7-bp deletion at the splicing acceptor site of intron 1. The deletion provoked a 6-amino acid in-frame deletion (p.Val149_Gln154del) in the alpha-helical rod domain of KRT71 protein
Experimental Evidence
Authors
Kuramoto T; Hirano R; Kuwamura M; Serikawa T
Abstract
The rat autosomal dominant Rex (Re) mutation on chromosome 7 causes curly hair in Re/+ and hair loss in Re/Re rats. Histopathologically, the Re/+ rat showed dilatation of the hair follicle and hairs with irregularly-coated cuticles, and the Re/Re rat showed more severe effects. We identified Re as a 7-bp deletion at the splicing acceptor site of intron 1 of the keratin 71 (Krt71) gene, which is located within the Re critical chromosomal region and plays an important role in hair formation. The deletion provoked a 6-amino acid in-frame deletion (p.Val149_Gln154del) in the alpha-helical rod domain of KRT71 protein. Identification of the Re mutation (Krt71(Re)) enables us to further understand the biological function of KRT71.
Additional References
RELATED GEPHE
Related Genes
No matches found.
Related Haplotypes
No matches found.
COMMENTS
@Splicing Acceptor Site
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