Mouse Genome Informatics
ht
    Ikbkgtm1Mka/Ikbkg+
involves: 129S1/Sv * 129X1/SvJ * C57BL/6J
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
mortality/aging
• approximately 55% of the heterozygous female died by day 9 with a severely runted and anemic appearance (J:63054)
• by day 10, surviving heterozygous females showed a striped fur and a few focal hyperkeratotic lesion (J:63054)
• those survived to 1 month gained weight and looked normal (J:63054)

liver/biliary system
• numbers of apoptotic cells in some heterozygous female mice at E12 (J:63054)

growth/size
• about half the size and weight of normal siblings by 5 days after birth (J:63054)

behavior/neurological
(J:63054)

adipose tissue
• lack of subcutaneous fat in day 9 heterozygous female mice (J:63054)

immune system
• in day 9 heterozygous female (J:63054)
• massive diffuse destruction of cortical lymphocytes (J:63054)
• the white pulp was barely discernible and lacked a marginal zone in day 9 heterozygous female spleen (J:63054)
• a patchy pigmentation that progressed to severe inflammation by 2 days after birth (J:63054)
• generalized erythematous eruption of the skin (J:63054)

cellular
• increased apoptosis of lymphocytes in day 9 thymus and spleen (J:63054)
• dispersed apoptotic keratinocytes in day 3 (J:63054)
• large clusters of apoptotic cells in day 9 epidermis (J:63054)
• numbers of apoptotic cells in some heterozygous female mice at E12 (J:63054)

hematopoietic system
• in day 9 heterozygous female (J:63054)
• massive diffuse destruction of cortical lymphocytes (J:63054)
• the bone marrow within the sternum was moderately cellular and composed almost entirely of nearly mature granulocytes in day 9 heterozygous female (J:63054)
• no megakaryocytes in the bone marrow within the sternum in day 9 heterozygous female (J:63054)
• the white pulp was barely discernible and lacked a marginal zone in day 9 heterozygous female spleen (J:63054)

integument
• lack of subcutaneous fat in day 9 heterozygous female mice (J:63054)
• dispersed apoptotic keratinocytes in day 3 (J:63054)
• large clusters of apoptotic cells in day 9 epidermis (J:63054)
• generalized erythematous eruption of the skin (J:63054)
• a patchy pigmentation that progressed to severe inflammation by 2 days after birth (J:63054)
• sparse hair growth notable by day 5 and later becomes bald (J:63054)
• hyperkeratotic lesions with spotty melanin deposits in certain areas (J:63054)
• lesions were shed by day 8 or 9 (J:63054)
• diffuse hyperplasia of the epidermis with multifocal hyperkeratosis and parakeratosis in tail from 8 or 9 day old (J:63054)
• diffuse hyperplasia of the epidermis with multifocal hyperkeratosis and parakeratosis in tail from 8 or 9 day old (J:63054)

endocrine/exocrine glands
• in day 9 heterozygous female (J:63054)
• massive diffuse destruction of cortical lymphocytes (J:63054)

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