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| Nomenclature |
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Symbol:
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Hephsla
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Name:
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hephaestin;
sex-linked anemia
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MGI ID: |
MGI:1857042 |
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Synonyms: |
sla |
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Gene:
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Heph
Location:
ChrX:96455359-96574485 bp, + strand
Genetic Position: ChrX,
42.69 cM
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Adult (6 month old) Cptm1Hrs/Cptm1Hrs Hephsla/Y retinal pigment epithelium and photoreceptors accumulate iron
Show the 3 image(s) involving this allele.
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Mutation
origin |
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Strain of Origin:
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Not Specified
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Mutation
description |
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Allele
Type: | |
Radiation induced |
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Mutation: | |
Intragenic deletion |
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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)
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Inheritance: | |
Recessive |
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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Notes |
Hemizygous males and homozygous females can be recognized at birth by their pale color and small size. They have a severe hypochromic anemia which tends to disappear with age and which can be cured by parenteral administration of iron. The anemia is due to a defect in intestinal iron transport. Iron uptake by the absorbing cells of the mucosa is normal, but iron transfer out of the mucosal cells is defective. The nature of the defect is unknown, but it may be associated with deficiency of a transferrin-like protein. The intestinal transport defect is not present at birth but develops by 12 to 15 days. Paradoxically, the defect in absorption is greater on high- than on low-iron diets. It appears to affect absorption of inorganic iron more severely than that of organic iron compounds (J:5681). The anemia of newborn mice is due to a defect in placental iron transport similar to that in the intestine (J:6052). Control of rate of iron uptake may be influenced by stores of iron in the absorbing cells, which acquired the iron from the circulation while they were still undifferentiated residents of the deep crypts. In the crypt cells of Hephsla/Y mice the amount of iron deposited after intravenous iron administration is greater than normal, either because of increased avidity or decreased return to plasma. These abnormal stores of iron might carry an abnormal message into the absorbing cells (J:5660).
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| References |
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Analysis Tools
