Mouse Genome Informatics
ht
    Ikbkgtm1Mka/Ikbkg+
involves: 129S1/Sv * 129X1/SvJ * C57BL/6J
Key:
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• approximately 55% of the heterozygous female died by day 9 with a severely runted and anemic appearance
• by day 10, surviving heterozygous females showed a striped fur and a few focal hyperkeratotic lesion
• those survived to 1 month gained weight and looked normal

liver/biliary system
• numbers of apoptotic cells in some heterozygous female mice at E12

growth/size/body
• about half the size and weight of normal siblings by 5 days after birth

behavior/neurological

adipose tissue
• lack of subcutaneous fat in day 9 heterozygous female mice

immune system
• in day 9 heterozygous female
• massive diffuse destruction of cortical lymphocytes
• the white pulp was barely discernible and lacked a marginal zone in day 9 heterozygous female spleen
• a patchy pigmentation that progressed to severe inflammation by 2 days after birth
• generalized erythematous eruption of the skin

cellular
• increased apoptosis of lymphocytes in day 9 thymus and spleen
• dispersed apoptotic keratinocytes in day 3
• large clusters of apoptotic cells in day 9 epidermis
• numbers of apoptotic cells in some heterozygous female mice at E12

hematopoietic system
• in day 9 heterozygous female
• massive diffuse destruction of cortical lymphocytes
• the bone marrow within the sternum was moderately cellular and composed almost entirely of nearly mature granulocytes in day 9 heterozygous female
• no megakaryocytes in the bone marrow within the sternum in day 9 heterozygous female
• the white pulp was barely discernible and lacked a marginal zone in day 9 heterozygous female spleen

integument
• lack of subcutaneous fat in day 9 heterozygous female mice
• dispersed apoptotic keratinocytes in day 3
• large clusters of apoptotic cells in day 9 epidermis
• a patchy pigmentation that progressed to severe inflammation by 2 days after birth
• generalized erythematous eruption of the skin
• sparse hair growth notable by day 5 and later becomes bald
• hyperkeratotic lesions with spotty melanin deposits in certain areas
• lesions were shed by day 8 or 9
• diffuse hyperplasia of the epidermis with multifocal hyperkeratosis and parakeratosis in tail from 8 or 9 day old
• diffuse hyperplasia of the epidermis with multifocal hyperkeratosis and parakeratosis in tail from 8 or 9 day old

endocrine/exocrine glands
• in day 9 heterozygous female
• massive diffuse destruction of cortical lymphocytes

Mouse Models of Human Disease
OMIM IDRef(s)
Incontinentia Pigmenti; IP 308300 J:63054