F8<i><sup>m1Ycb</sup></i> (coagulation factor VIII, procoagulant component; mutation 1, Ycb) - Rat Genome Database

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Gene: F8m1Ycb (coagulation factor VIII, procoagulant component; mutation 1, Ycb) Rattus norvegicus
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Symbol: F8m1Ycb
Name: coagulation factor VIII, procoagulant component; mutation 1, Ycb
RGD ID: 2314903
Description: This allele is a naturally occurring missense mutation found in an inherited coagulopathy arising in an inbred colony of WAG/RijYcb (RGD:2314861). Mutation in the nucleotide 578 of the rat F8 gene changes amino acid 193 in the rat protein(amino acid 176 in human)from Leucine to Proline.
ASSOCIATED WITH decreased erythrocyte cell number; decreased hematocrit; decreased hemoglobin content; ASSOCIATED WITH factor VIII deficiency
Type: allele  of F8  
Previously known as: F8^[m1Ycb]; F8m1Ycb
Is Marker For: Strains:   WAG-F8m1Ycb  
Latest Assembly: mRatBN7.2 - mRatBN7.2 Assembly
Position:
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Cytogenetic Map18 RGD


Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Mammalian Phenotype
References

References - curated
# Reference Title Reference Citation
1. WAG-F8(m1Ycb) rats harboring a factor VIII gene mutation provide a new animal model for hemophilia A. Booth CJ, etal., J Thromb Haemost. 2010 Nov;8(11):2472-7. doi: 10.1111/j.1538-7836.2010.03978.x.
2. Strains registered by Dr. Carmen J Booth Personal communication between Dr. Carmen J Booth and the RGD curators.

Genomics

Allelic Variants
Name Chromosome Start Pos End Pos Reference Nucleotide Variant Nucleotide Variant Type Assembly
F8m1Ycb-var1 chr18 145719 145719 T C point_mutation mRatBN7.2
F8m1Ycb-var1 chr18 394478 394478 T C point_mutation Rnor_6.0

Related Rat Strains
The following Strains have been annotated to F8m1Ycb
WAG-F8m1Ycb    


Expression


Sequence

Nucleotide Sequences
RefSeq Transcripts NM_183331 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles


Additional Information