Categories: Pigmentation phene , Mortality / aging (incl. embryonic lethal) , Integument (skin) phene

Possible human homologues (MIM numbers): 308300 (trait) , 300248 (gene)

Links to relevant human diseases in MONDO:

• MONDO:0010631: incontinentia pigmenti

Cross-species summary: Familial incontinentia pigmenti (IP) is a genodermatosis that segregates as an X-linked dominant disorder and is usually lethal prenatally in males (for a summary of the human disorder, see Smahi et al., 2000). In affected females it causes highly variable abnormalities of the skin, hair, nails, teeth, eyes, and central nervous system. The prominent skin signs occur in 4 classic cutaneous stages: perinatal inflammatory vesicles, verrucous patches, a distinctive pattern of hyperpigmentation, and dermal scarring. Cells expressing the mutated X chromosome are eliminated selectively around the time of birth, so females with IP exhibit extremely skewed X-inactivation. As noted in the MIM entry hyperlinked above, it is possible that the bovine disorder Streaked hairlessness (also known as Streaked hypotrichosis) (OMIA 000542-9913) is actually homologous to Incontinentia pigmenti.

Species in which this phene is found:
horse (Equus caballus)