Heph^sla
Radiation induced Allele Detail

Summary

• Symbol: Heph^sla
• 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: Heph^sla page

Accumulation of of iron in Cp^tm1Hrs/Cp^tm1Hrs Heph^sla/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 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

Disease models

Expression

In Structures Affected by this Mutation:

3 anatomical structure(s)

Tumor Data

List all tumor models in MMHCdb carrying Heph^sla

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: 11 strains or lines available

References

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