Mouse Genome Informatics
ht
    NsdhlBpa-1H/Nsdhl+
involves: 101/H * C3H/HeH
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
mortality/aging
• incomplete penetrance; significant perinatal losses of heterozygous females (J:95508)
• incomplete penetrance; significant postnatal losses of heterozygous females (J:95508)

growth/size/body

limbs/digits/tail
• feet are sometimes shorter than controls (J:5403)
• other skeletal elements may be affected (J:5403)
• hind toes are often shortened (J:5403)
• one or more hind toes are bent (J:5403)
(J:7012)
(J:7012)
(J:7012)

skeleton
• premature calcification of the vertebral bones and epiphysis of the limb bones is seen at 5 days of age (J:7012)

vision/eye
• both unilateral and bilateral cataracts are seen (J:7012)

behavior/neurological
• offspring of heterozygous females show reduced viability regardless of genotype, suggesting a maternal nurturing defect (J:5403)

pigmentation
• appearance of dark stripes on coat adjacent to bare skin due to visibility of the dark base of hairs (J:5403)

integument
• appearance of dark stripes on coat adjacent to bare skin due to visibility of the dark base of hairs (J:5403)
• 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)
• adult animals appear scruffy (J:5403)
(J:7012)
• shafts are of uneven diameter and appear twisted (J:7012)
• by P8, mice exhibit hyperkeratotic skin eruptions, arranged in a linear and blotchy pattern (J:7012)
• thick hyperkeratosis; reaches into the hair follicles (J:7012)

Mouse Models of Human Disease
OMIM IDRef(s)
Chondrodysplasia Punctata 2, X-Linked Dominant; CDPX2 302960 J:7012