Phenotypes Associated with This Genotype

Genotype
MGI:3587801

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

• ♀: 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