About   Help   FAQ
Radiation induced Allele Detail
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.

Strain of Origin:  Not Specified
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
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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:  8 strains or lines available
Original:  J:64261 Grewal MS, sla - sex-linked anemia. Mouse News Lett. 1962;26:43
All:  25 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
MGI 6.11
The Jackson Laboratory