Summary | Mutation origin | Mutation description | Expression | Phenotypes | Disease models | Tumor data | Find Mice (IMSR) | References

Symbol: Hephsla Name: hephaestin; sex-linked anemia MGI ID: MGI:1857042 Synonyms: sla Gene: Heph  Location: ChrX:95499042-95618091 bp, + strand  Genetic Position: ChrX, 42.69 cM Alliance: Hephsla page

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 details: The 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).

In Structures Affected by this Mutation:

3 anatomical structure(s)

List all tumor models in MMHCdb carrying Hephsla

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:	11 strains or lines available

Original:	J:64261 Grewal MS, sla - sex-linked anemia. Mouse News Lett. 1962;26:43
All:	27 reference(s)