Phenotypes associated with this allele

• Allele Symbol: Nsdhl^Str-1H
• Allele Name: striated 1 Harwell
• Allele ID: MGI:1857780
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Nsdhl^Str-1H/Nsdhl^+	involves: 101/H * C3H/HeH	MGI:3590076
ot2	Nsdhl^Str-1H/Y	involves: 101/H * C3H/HeH	MGI:3590074

Genotype
MGI:3590076

ht1

• 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

Genotype
MGI:3590074

ot2

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

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:290 , J:55488 , J:95508 )

♂ • die between 11.5 and 13 days of gestation (J:290)

♂ (J:55488)

♂ • hemizygous male embryos die between E12.5 and E13.5 (J:95508)

embryo

embryonic growth retardation ( J:95508 )

♂

decreased embryo size ( J:95508 )

♂

abnormal placenta labyrinth morphology ( J:95508 )

♂ • labyrinthine layer is thinner and is disorganized

thin placenta labyrinth ( J:95508 )

♂

disorganized placental labyrinth ( J:95508 )

♂

small placenta ( J:95508 )

♂ • smaller than in controls

♂ • significantly reduced thickness compared to controls

pale yolk sac ( J:95508 )

♂ • yolk sacs appear pale

abnormal vitelline vascular remodeling ( J:95508 )

♂ • fewer and/or narrower blood vessels in yolk sac, and exhibit abnormal remodeling and vessel branching

growth/size/body

embryonic growth retardation ( J:95508 )

♂

decreased embryo size ( J:95508 )

♂

cardiovascular system

pericardial effusion ( J:95508 )

♂ • seen in less that 10% of embryos

hemorrhage ( J:95508 )

♂ • incomplete penetrance; fetal hemorrhage

homeostasis/metabolism

pericardial effusion ( J:95508 )

♂ • seen in less that 10% of embryos

integument

pallor ( J:95508 )

♂