Phenotypes Associated with This Genotype

Genotype
MGI:3621818

• Allelic Composition: Ikbkg^tm1Mka/Ikbkg⁺
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

mortality/aging

postnatal lethality, incomplete penetrance ( J:63054 )

♀ • 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

increased hepatocyte apoptosis ( J:63054 )

♀ • numbers of apoptotic cells in some heterozygous female mice at E12

growth/size/body

decreased body weight ( J:63054 )

♀ • about half the size and weight of normal siblings by 5 days after birth

behavior/neurological

tremors ( J:63054 )

♀

abnormal locomotor behavior ( J:63054 )

♀

adipose tissue

absent subcutaneous adipose tissue ( J:63054 )

♀ • lack of subcutaneous fat in day 9 heterozygous female mice

immune system

small thymus ( J:63054 )

♀ • in day 9 heterozygous female

♀ • massive diffuse destruction of cortical lymphocytes

small spleen ( J:63054 )

♀ • the white pulp was barely discernible and lacked a marginal zone in day 9 heterozygous female spleen

erythroderma ( J:63054 )

♀ • a patchy pigmentation that progressed to severe inflammation by 2 days after birth

♀ • generalized erythematous eruption of the skin

cellular

increased apoptosis ( J:63054 )

♀ • increased apoptosis of lymphocytes in day 9 thymus and spleen

increased keratinocyte apoptosis ( J:63054 )

♀ • dispersed apoptotic keratinocytes in day 3

♀ • large clusters of apoptotic cells in day 9 epidermis

increased hepatocyte apoptosis ( J:63054 )

♀ • numbers of apoptotic cells in some heterozygous female mice at E12

hematopoietic system

small thymus ( J:63054 )

♀ • in day 9 heterozygous female

♀ • massive diffuse destruction of cortical lymphocytes

abnormal bone marrow cell morphology/development ( J:63054 )

♀ • the bone marrow within the sternum was moderately cellular and composed almost entirely of nearly mature granulocytes in day 9 heterozygous female

absent megakaryocytes ( J:63054 )

♀ • no megakaryocytes in the bone marrow within the sternum in day 9 heterozygous female

small spleen ( J:63054 )

♀ • the white pulp was barely discernible and lacked a marginal zone in day 9 heterozygous female spleen

integument

absent subcutaneous adipose tissue ( J:63054 )

♀ • lack of subcutaneous fat in day 9 heterozygous female mice

increased keratinocyte apoptosis ( J:63054 )

♀ • dispersed apoptotic keratinocytes in day 3

♀ • large clusters of apoptotic cells in day 9 epidermis

erythroderma ( J:63054 )

♀ • a patchy pigmentation that progressed to severe inflammation by 2 days after birth

♀ • generalized erythematous eruption of the skin

sparse hair ( J:63054 )

♀ • sparse hair growth notable by day 5 and later becomes bald

hyperkeratosis ( J:63054 )

♀ • 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

parakeratosis ( J:63054 )

♀ • diffuse hyperplasia of the epidermis with multifocal hyperkeratosis and parakeratosis in tail from 8 or 9 day old

endocrine/exocrine glands

small thymus ( J:63054 )

♀ • in day 9 heterozygous female

♀ • massive diffuse destruction of cortical lymphocytes

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Bloch-Sulzberger syndrome		DOID:12305	OMIM:308300	J:63054