behavior/neurological phenotype

• abnormal nursing
  • failure
  (MGI Ref ID J:2409)

endocrine/exocrine gland phenotype

• abnormal mammary gland morphology
  • no ducts
  (MGI Ref ID J:2409)
  • nipple at bottom of cup-shaped depression in skin
  (MGI Ref ID J:2409)
  • small
  (MGI Ref ID J:2409)

• sebaceous gland atrophy
  (MGI Ref ID J:2409)

integument phenotype

• abnormal mammary gland morphology
  • no ducts
  (MGI Ref ID J:2409)
  • small
  (MGI Ref ID J:2409)
  • nipple at bottom of cup-shaped depression in skin
  (MGI Ref ID J:2409)

• hairless
  (MGI Ref ID J:2409)
  • beginning ~15 days of age and progressing from nose back
  (MGI Ref ID J:2405)

• dermal cysts
  (MGI Ref ID J:14889)

• abnormal skin morphology
  • thickened cutis
  (MGI Ref ID J:2409)

• epidermal hyperplasia
  (MGI Ref ID J:14940)

• abnormal dermis reticular layer morphology
  • cystic
  (MGI Ref ID J:2409)

• hyperkeratosis
  (MGI Ref ID J:14940)

• sebaceous gland atrophy
  (MGI Ref ID J:2409)

• deformed nails
  • curved
  (MGI Ref ID J:2409)

cellular phenotype

• decreased T cell proliferation
  • to alloantigens by T helper cells
  (MGI Ref ID J:6375)

hearing/vestibular/ear phenotype

• absent linear vestibular evoked potential
  • VESPs are absent at the maximum stimulus intensity used
  (MGI Ref ID J:116914)

hematopoietic system phenotype

• increased macrophage cell number
  • although heterozygotes and homozygotes have the same total number of peritoneal cells, the percentage expressing Mac-1 is an average of 30% in homozygotes versus an average of 14% in heterozygotes
  (MGI Ref ID J:150402)

• decreased T cell number
  • of CD5+ T cells
  (MGI Ref ID J:6087)

• decreased T cell proliferation
  • to alloantigens by T helper cells
  (MGI Ref ID J:6375)

immune system phenotype

• decreased T cell number
  • of CD5+ T cells
  (MGI Ref ID J:6087)

• decreased T cell proliferation
  • to alloantigens by T helper cells
  (MGI Ref ID J:6375)

• increased macrophage cell number
  • although heterozygotes and homozygotes have the same total number of peritoneal cells, the percentage expressing Mac-1 is an average of 30% in homozygotes versus an average of 14% in heterozygotes
  (MGI Ref ID J:150402)

neoplasm

• increased leukemia incidence
  • at 8 to 10 months of age 45% of homozygotes have lymphoid leukemia, compared with only 1% in heterozygotes, and approximately 72% of these homozygotes develop myeloid leukemia later in life up to 18 months of age
  (MGI Ref ID J:24786)
  • increased incidence
  (MGI Ref ID J:5726)