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Hair interior defect in AKR/J mice.

K A Giehl¹, C S Potter, B Wu

¹Department of Dermatology, Ludwig Maximilian University, Munich, Germany.

Clinical and Experimental Dermatology

|June 16, 2009

Summary

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Researchers identified a novel hair interior defect (HID) in AKR/J mice, caused by an autosomal recessive mutation. The hid locus was mapped to mouse chromosome 1, potentially revealing insights into human hair disorders.

Area of Science:

Genetics
Dermatology
Molecular Biology

Background:

AKR/J mice exhibit a subtle hair fiber defect affecting the central portion, observable via light microscopy.
This defect, termed hair interior defect (HID), necessitates further characterization.

Purpose of the Study:

To characterize the clinical and ultrastructural features of the HID phenotype.
To determine the chromosomal localization of the hid mutant gene locus.

Main Methods:

Utilized light microscopy, scanning electron microscopy (SEM), and transmission electron microscopy (TEM) for phenotypic characterization.
Employed complementation testing and gene-linkage studies for locus mapping.

Main Results:

SEM and TEM revealed no surface or sulfur content differences, but TEM showed medullary degenerative changes.

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An autosomal recessive mutation, HID (locus symbol: hid), was identified.

The hid locus was mapped to the distal end of mouse chromosome 1, excluding Lbr.

Conclusions:

A novel gene or a known gene with a novel phenotype is located within the mapped interval on chromosome 1.
This finding may offer insights into human diseases affecting the inner hair fiber structure.