Phenotypes Associated with This Genotype

Genotype
MGI:3590076

• Allelic Composition: Nsdhl^Str-1H/Nsdhl⁺
• Genetic Background: involves: 101/H * C3H/HeH

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

endocrine/exocrine glands

abnormal sweat gland morphology ( J:106524 )

♀ • sweat glands are severely dystrophic or completely absent from paws

mortality/aging

mortality/aging ( J:55488 )

♀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

irregular coat pigmentation ( J:290 , J:55488 )

♀ • 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 ( J:106524 )

♀ • kyphosis is seen in some mice

vision/eye

abnormal retina morphology ( J:106524 )

♀ • adult eyes show severe retinal dystrophy or absence of retinal cells

retina degeneration ( J:106524 )

♀

integument

abnormal sweat gland morphology ( J:106524 )

♀ • sweat glands are severely dystrophic or completely absent from paws

abnormal auchene hair morphology ( J:55488 )

♀ • 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

irregular coat pigmentation ( J:290 , J:55488 )

♀ • 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)

short hair ( J:55488 )

♀ • the dark stripes in striated heterozygous female mice are due to shortening of the hairs

abnormal guard hair morphology ( J:55488 )

♀ • 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