Mouse Strain information
APB ID 64
Added 28/04/2004
Last Edited 10/05/2014
Strain nomenclature: STOCK H2k2 Steap3fred/AnuApb
Nickname: Fragile red (redburst, fred, snow), ENU5WT:027
Strain designation name: STOCK H2k2 Steap3fred/AnuApb
Genetics
Strain Types Mutant strain
Congenic
Genetic Details Chemically induced : ENU
Mode of Inheritance Recessive
1.  Affected Gene Name: STEAP family member 3  
Chromosome 1
Affected Gene Symbol Steap3
Protein expression of altered gene: Nil
Genetic alteration of gene: ENU induced mutation
Location on chromosome (bp): 122087334-122169282 bp, - strand (From VEGA annotation of NCBI Build 37)
MGI Gene Accession ID

Please also use this link to determine if other mutants have been registered with MGI (Mouse Genome Informatics)

 MGI:1915678
Synonyms pHyde
Allele Name fragile-red
Allele Symbol Steap3fred
MGI Allele Accession ID MGI:3758911
Ensembl Gene ID: ENSMUSG00000026389
bp change: T to C at position 1292 on cDNA
Exon number: 4
Exon ID: ENSMUSE00000158639
cDNA position: 1292
Amino acid change: Tyrosine to Histidine at position 288
Sequence:
1262GCTGCGCTTCAGCTGCGGAGGGGGACCAAGTACCAGCGCTTCCCAGACTGGCTGGACCACTcDNA (reverse strand)
278-A--A--L--Q--L--R--R--G--T--K--Y--Q--R--F--P--D--W--L--D--H--protein
Version: NCBI m37, Ensembl build 55
1.  Affected Congenic Gene Name: histocompatibility-2, MHC  
Mutant Construction Technique None
Phenotype
Phenotype Homozygous State Hypochromic microcytic anemia, erythrocyte poikilocytosis, defect in iron transport, defect in endosomal targeting to acidified endosomes. Mutation disrupts the endosomal targeting motif of the Steap3 protein.
Original Genetic Background C57BL/6JSfdAnu
Genetic Background Currently Maintained C57BL/6JSfdAnu x B10.BR-H2k2
Coat Colour Black
Strain Images
Representative peripheral blood film from wild-type and fragile-red. Bar = 10 µm.
Representative peripheral blood film from wild-type and fragile-red. Bar = 10 µm.
Strain identification
How is this strain characterised? Genotyping
Fertility and Strain maintenance
Fertility and Strain maintenance
Relevant bibliographic / database references
Strain Specific References
Other Related References
General information
Associated IP rights? No
Does it Model a Human Condition? Unknown
Applicable Research Areas Haematology
Keywords
  • anaemia
  • erythrocyte
  • endosome
  • ENU
  • Wellcome Trust
  • red blood cell
Additional Information Discovered by Wellcome Trust flow cytometry screen by Sara Dawson and Michelle Lepherd (JCSMR, ANU). Mutation mapped and identified by Dr Teresa Lambe (Oxford). Project guided by Prof Richard Cornall and Prof Chris Goodnow.
Is the strain available in any form to other researchers Yes
APB stock stored as: Cryopreserved sperm (from 6 mice)

APB stock genotyped verified by: Unverified
Are live mice available? No
MTA needs to be signed? Yes


     

 


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