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Phenotypes Associated with This Genotype
Genotype
MGI:3590076
Allelic
Composition
NsdhlStr-1H/Nsdhl+
Genetic
Background
involves: 101/H * C3H/HeH
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
NsdhlStr-1H mutation (2 available); any Nsdhl mutation (7 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
endocrine/exocrine glands
• sweat glands are severely dystrophic or completely absent from paws

mortality/aging
N
• viability in striated females appears to be normal, but misclassification due to reduced penetrance causes an apparent shortage of heterozygotes in segregating generations

pigmentation
• incomplete penetrance (approximately 80% of females exhibit this phenotype); appearance of dark transverse stripes on coat, usually not distinguishable until 16-18 days of age (J:290)
(J:55488)

skeleton
• kyphosis is seen in some mice

vision/eye
• adult eyes show severe retinal dystrophy or absence of retinal cells

integument
• sweat glands are severely dystrophic or completely absent from paws
• there is a shortage of auchene hairs among the short hairs of striated heterozygous females, but zigzags and awls occur in approximately the normal ratio to each other
• incomplete penetrance (approximately 80% of females exhibit this phenotype); appearance of dark transverse stripes on coat, usually not distinguishable until 16-18 days of age (J:290)
(J:55488)
• the dark stripes in striated heterozygous female mice are due to shortening of the hairs
• there is a shortage of guard hairs among the short hairs of striated heterozygous females, but zigzags and awls occur in approximately the normal ratio to each other

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
Bloch-Sulzberger syndrome DOID:12305 OMIM:308300
J:106524


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
01/12/2022
MGI 6.17
The Jackson Laboratory