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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Ikbkgtm1Mpa
targeted mutation 1, Manolis Pasparakis
MGI:2386324
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
ht1
Ikbkgtm1Mpa/Ikbkg+ involves: C57BL/6 MGI:3844910
ot2
Ikbkgtm1Mpa/Y involves: C57BL/6 MGI:3844909


Genotype
MGI:3844910
ht1
Allelic
Composition
Ikbkgtm1Mpa/Ikbkg+
Genetic
Background
involves: C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ikbkgtm1Mpa mutation (0 available); any Ikbkg mutation (12 available)
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
• 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
• 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 ID Ref(s)
Incontinentia Pigmenti; IP 308300 J:63055




Genotype
MGI:3844909
ot2
Allelic
Composition
Ikbkgtm1Mpa/Y
Genetic
Background
involves: C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ikbkgtm1Mpa mutation (0 available); any Ikbkg mutation (12 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• lethality occurs to male embryos carrying this allele likely from massive apoptosis of embryonic hepatocytes

cellular
• embryonic fibroblasts have high rates of apoptosis caused by TNF signaling

immune system
• embryonic fibroblasts fail to produce IL-6 in response to stimulation
• embryonic fibroblasts fail to produce TNF in response to stimulation





Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
05/24/2016
MGI 6.04
The Jackson Laboratory