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Hephsla
Radiation induced Allele Detail
Nomenclature
Symbol: Hephsla
Name: hephaestin; sex-linked anemia
MGI ID: MGI:1857042
Synonyms: sla
Gene: Heph  Location: ChrX:96455359-96574485 bp, + strand  Genetic Position: ChrX, 42.69 cM
Accumulation of of iron in Cptm1Hrs/Cptm1Hrs Hephsla/Y retinal pigment epithelium and photoreceptors

Show the 3 phenotype image(s) involving this allele.

Mutation
origin
Strain of Origin:  Not Specified
Mutation
description
Allele Type:    Radiation induced
Mutation:    Intragenic deletion
 
Mutation detailsThe mutation in the sla mouse is thought to be a 3.5 kb deletion with breakpoints distal to exon 9 and proximal to exon 12. RT-PCR analysis of mRNA derived from intestine of homozygous mice confirmed that 582 nt of sequence was absent, and predicts an in-frame omission of 194 aa from the encoded protein. Northern blot analysis confirmed that a smaller message was made in homozygous mice. Immunohistochemistry of homozygotes detects HEPH staining only in the supreanuclear compartment of intestinal enterocgyes. (J:52535, J:149735)
Inheritance:    Recessive
Phenotypes
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View phenotypes for all genotypes (concatenated display).
Disease models
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Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any Heph Mutation:  4 strains or lines available
References
Original:  J:64261 Grewal MS, sla - sex-linked anemia. Mouse News Lett. 1962;26:43
All:  23 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
04/07/2015
MGI 5.21
The Jackson Laboratory