Mouse Genome Informatics
ht
    Ikbkgtm1Mpa/Ikbkg+
involves: C57BL/6
Key:
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• 19 of 22 mice die between 6-10 days of age

growth/size/body
• mice have growth restriction starting a few days after birth
• the few survivors that make it to weaning recover in weight and in general health

pigmentation
• increased numbers of phagocytes containing melanosome complexes are found in the dermis
• 3-4 day old mice have skin with areas of reduced or absent pigmentation

immune system
• 4 day old mouse skin have numerous inflammatory foci with infiltration of granulocytes into the epidermis
• this infiltration is declining by 8 days of age

integument
• apoptotic keratinocytes are found in the suprabasal layer of 8 day old epidermis
• at 6 weeks of age, increased apoptosis is extended to both basal and suprabasal keratinocyte layers but is detected only in small affected patches showing abnormal structure and increased proliferation
• this infiltration is declining by 8 days of age
• 4 day old mouse skin have numerous inflammatory foci with infiltration of granulocytes into the epidermis
• hair growth is retarded on the scaly patches of skin present on neonates
• the few survivors continue to display patches lacking hair growth
• abnormal gaps form between the keratinocytes of the suprabasal and basal layers
• keratinocytes are in loose contact with each other forming filopodia that extend into the dilated intercellular spaces
• keratinocytes in the cornified layer of 8 day old mice contains cell bodies and nuclei
• the suprabasal layer of 8 day old mice is thicker than controls
• keratinocytes in the epidermis have abnormal tonofilament structure and no desmosomes
• the epidermis of 8 day old mice is thicker than controls
• skin lacking pigmentation becomes hard, inflexible and scaly by 7 days after birth
• increased numbers of phagocytes containing melanosome complexes are found in the dermis
• 3-4 day old mice have skin with areas of reduced or absent pigmentation

cellular
• apoptotic keratinocytes are found in the suprabasal layer of 8 day old epidermis
• at 6 weeks of age, increased apoptosis is extended to both basal and suprabasal keratinocyte layers but is detected only in small affected patches showing abnormal structure and increased proliferation

Mouse Models of Human Disease
OMIM IDRef(s)
Incontinentia Pigmenti; IP 308300 J:63055