All Phenotypes Nsdhl<+> MGI Mouse

About Help FAQ

Phenotypes associated with this allele

Allele Symbol
Allele Name
Allele ID

Nsdhl⁺
wild type
MGI:2434852

Summary

11 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Nsdhl^Bpa-1H/Nsdhl⁺	involves: 101/H * C3H/HeH	MGI:3587801
ht2	Nsdhl^Str-1H/Nsdhl⁺	involves: 101/H * C3H/HeH	MGI:3590076
ht3	Nsdhl^Str-2H/Nsdhl⁺	involves: 101/H * C3H/HeH	MGI:3590091
ht4	Nsdhl^Bpa-3H/Nsdhl⁺	involves: 101/H * C3H/HeH	MGI:3590095
ht5	Nsdhl^Bpa-5H/Nsdhl⁺	involves: 101/H * C3H/HeH	MGI:3590127
ht6	Nsdhl^Bpa-6H/Nsdhl⁺	involves: 101/H * C3H/HeH	MGI:3590130
ht7	Nsdhl^Str-1Or/Nsdhl⁺	involves: 101/Rl * C3H/Rl	MGI:3590078
ht8	Nsdhl^Bpa-8H/Nsdhl⁺	involves: BALB/c * C3H/HeN	MGI:3587824
ht9	Nsdhl^Bpa-7H/Nsdhl⁺	Not Specified	MGI:3587826
ht10	Nsdhl^Bpa-4H/Nsdhl⁺	Not Specified	MGI:3590125
cn11	Nsdhl^tm1.1Hrm/Nsdhl⁺ Edil3^{Tg(Sox2-cre)1Amc}/Edil3⁺	involves: 129S6/SvEvTac * C57BL/6 * C57BL/6N * CBA	MGI:5896532

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

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nsdhl^Bpa-1H mutation (0 available); any Nsdhl mutation (8 available)

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

mortality/aging

perinatal lethality, incomplete penetrance ( J:95508 )

• incomplete penetrance; significant perinatal losses of heterozygous females

postnatal lethality, incomplete penetrance ( J:95508 )

• incomplete penetrance; significant postnatal losses of heterozygous females

growth/size/body

decreased body size ( J:5403 )

decreased body weight ( J:5403 )

limbs/digits/tail

abnormal limb morphology ( J:7012 )

brachypodia ( J:5403 )

• feet are sometimes shorter than controls

• other skeletal elements may be affected

abnormal digit morphology ( J:7012 )

brachydactyly ( J:5403 )

• hind toes are often shortened

clinodactyly ( J:5403 )

• one or more hind toes are bent

short limbs ( J:7012 )

abnormal tail morphology ( J:7012 )

short tail ( J:7012 )

kinked tail ( J:7012 )

skeleton

premature endochondral bone ossification ( J:7012 )

• premature calcification of the vertebral bones and epiphysis of the limb bones is seen at 5 days of age

vision/eye

cataract ( J:7012 )

• both unilateral and bilateral cataracts are seen

behavior/neurological

abnormal maternal nurturing ( J:5403 )

• offspring of heterozygous females show reduced viability regardless of genotype, suggesting a maternal nurturing defect

pigmentation

irregular coat pigmentation ( J:5403 )

• appearance of dark stripes on coat adjacent to bare skin due to visibility of the dark base of hairs

integument

abnormal coat/ hair morphology ( J:7012 )

irregular coat pigmentation ( J:5403 )

• appearance of dark stripes on coat adjacent to bare skin due to visibility of the dark base of hairs

alopecia ( J:5403 , J:7012 )

• at P5, patches of bare skin are apparent among emerging coat hair (J:5403)

• large bare patches are apparent in adults (J:5403)

• bare patches in coat in a linear and blotchy pattern (J:7012)

disheveled coat ( J:5403 , J:7012 )

• adult animals appear scruffy (J:5403)

(J:7012)

abnormal hair shaft morphology ( J:7012 )

• shafts are of uneven diameter and appear twisted

hyperkeratosis ( J:7012 )

• by P8, mice exhibit hyperkeratotic skin eruptions, arranged in a linear and blotchy pattern

• thick hyperkeratosis; reaches into the hair follicles

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
X-linked chondrodysplasia punctata 1		DOID:0060292	OMIM:302950	J:7012

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

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nsdhl^Str-1H mutation (2 available); any Nsdhl mutation (8 available)

♀	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:55488 , 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)

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:55488 , 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)

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

Allelic Composition	Nsdhl^Str-2H/Nsdhl⁺
Genetic Background	involves: 101/H * C3H/HeH

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nsdhl^Str-2H mutation (0 available); any Nsdhl mutation (8 available)

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

pigmentation

irregular coat pigmentation ( J:55488 )

• striped coat apparent by day 12 of age

variable body spotting ( J:55488 )

• occasional white patches on coat by 4 weeks of age

integument

irregular coat pigmentation ( J:55488 )

• striped coat apparent by day 12 of age

variable body spotting ( J:55488 )

• occasional white patches on coat by 4 weeks of age

Allelic Composition	Nsdhl^Bpa-3H/Nsdhl⁺
Genetic Background	involves: 101/H * C3H/HeH

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nsdhl^Bpa-3H mutation (0 available); any Nsdhl mutation (8 available)

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

skeleton

abnormal skeleton morphology ( J:55488 )

• skeletal dysplasia

abnormal vertebral column morphology ( J:90559 )

• some have spine abnormalities

pigmentation

irregular coat pigmentation ( J:55488 )

• striped coat

integument

irregular coat pigmentation ( J:55488 )

• striped coat

focal hair loss ( J:90559 )

• bare patches on coat are clearly visible at weaning

hyperkeratosis ( J:55488 )

• hyperkeratotic eruptions by 5-7 days of age

abnormal skin condition ( J:90559 )

• scarring on females at 4 days old

Allelic Composition	Nsdhl^Bpa-5H/Nsdhl⁺
Genetic Background	involves: 101/H * C3H/HeH

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nsdhl^Bpa-5H mutation (0 available); any Nsdhl mutation (8 available)

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

pigmentation

irregular coat pigmentation ( J:55488 )

• striped coat

skeleton

abnormal skeleton morphology ( J:55488 )

• skeletal dysplasia

short vertebral column ( J:90559 )

• some have spine abnormalities

growth/size/body

decreased body size ( J:90559 )

• small at birth

integument

irregular coat pigmentation ( J:55488 )

• striped coat

focal hair loss ( J:90559 )

• bare patches on coat are apparent at 8 days of age

hyperkeratosis ( J:55488 )

• hyperkeratotic eruptions by 5-7 days of age

Allelic Composition	Nsdhl^Bpa-6H/Nsdhl⁺
Genetic Background	involves: 101/H * C3H/HeH

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nsdhl^Bpa-6H mutation (0 available); any Nsdhl mutation (8 available)

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

pigmentation

irregular coat pigmentation ( J:55488 )

• striped coat

skeleton

abnormal skeleton morphology ( J:55488 )

• skeletal dysplasia

integument

irregular coat pigmentation ( J:55488 )

• striped coat

focal hair loss ( J:90559 )

• bare patches on coat may be observed at 4 days of age and are clearly visible at weaning

hyperkeratosis ( J:55488 )

• hyperkeratotic eruptions by 5-7 days of age

Allelic Composition	Nsdhl^Str-1Or/Nsdhl⁺
Genetic Background	involves: 101/Rl * C3H/Rl

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nsdhl^Str-1Or mutation (0 available); any Nsdhl mutation (8 available)

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

pigmentation

irregular coat pigmentation ( J:55488 , J:100221 )

• striped coat apparent by day 12 of age (J:55488)

(J:100221)

variable body spotting ( J:55488 )

• occasional white patches on coat by 4 weeks of age

integument

abnormal coat/ hair morphology ( J:100221 )

• hair quality altered

irregular coat pigmentation ( J:55488 , J:100221 )

• striped coat apparent by day 12 of age (J:55488)

(J:100221)

variable body spotting ( J:55488 )

• occasional white patches on coat by 4 weeks of age

Allelic Composition	Nsdhl^Bpa-8H/Nsdhl⁺
Genetic Background	involves: BALB/c * C3H/HeN

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nsdhl^Bpa-8H mutation (2 available); any Nsdhl mutation (8 available)

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

growth/size/body

decreased body size ( J:90559 , J:95508 )

• small at weaning age (J:90559)

• moderate dwarfing (J:95508)

pigmentation

irregular coat pigmentation ( J:90559 )

• striped appearance

integument

irregular coat pigmentation ( J:90559 )

• striped appearance

alopecia ( J:100224 )

• bare patches on skin with no hair

hyperkeratosis ( J:95508 , J:100224 )

(J:95508)

• hyperkeratotic eruptions at P5-7 (J:100224)

abnormal skin condition ( J:90559 , J:100224 )

• scarring on the skin is apparent at 8 days of age (J:90559)

(J:100224)

Allelic Composition	Nsdhl^Bpa-7H/Nsdhl⁺
Genetic Background	Not Specified

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nsdhl^Bpa-7H mutation (0 available); any Nsdhl mutation (8 available)

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

integument

alopecia ( J:100224 )

• bare patches on skin with no hair

hyperkeratosis ( J:100224 )

• hyperkeratotic eruptions at P5-7

abnormal skin condition ( J:100224 )

• scarring on the skin is apparent at 8 days of age

Allelic Composition	Nsdhl^Bpa-4H/Nsdhl⁺
Genetic Background	Not Specified

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nsdhl^Bpa-4H mutation (0 available); any Nsdhl mutation (8 available)

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

skeleton

abnormal vertebral column morphology ( J:90559 )

• some have spine abnormalities

integument

alopecia ( J:90559 )

• bare patches on coat at 8 days, but barely visible at weaning

Allelic Composition	Nsdhl^tm1.1Hrm/Nsdhl⁺ Edil3^{Tg(Sox2-cre)1Amc}/Edil3⁺
Genetic Background	involves: 129S6/SvEvTac * C57BL/6 * C57BL/6N * CBA

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Edil3^{Tg(Sox2-cre)1Amc} mutation (5 available); any Edil3 mutation (43 available)
Nsdhl^tm1.1Hrm mutation (0 available); any Nsdhl mutation (8 available)

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

integument

abnormal hair growth ( J:220990 )

• patches of hairless skin

hyperkeratosis ( J:220990 )

• patches of hyperkeratotic skin

growth/size/body

decreased body size ( J:220990 )

skeleton

abnormal skeleton morphology ( J:220990 )

• skeletal abnormalities

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)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 03/18/2025 MGI 6.24