Phenotypes associated with this allele

• Allele Symbol: Ikbkg⁺
• Allele Name: wild type
• Allele ID: MGI:2437777
• Summary: 4 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Ikbkg^tm1.1Dwat/Ikbkg^+	B6.Cg-Ikbkg^tm1.1Dwat	MGI:5543237
ht2	Ikbkg^m1Btlr/Ikbkg^+	C57BL/6J-Ikbkg^m1Btlr	MGI:3808878
ht3	Ikbkg^tm1Mka/Ikbkg^+	involves: 129S1/Sv * 129X1/SvJ * C57BL/6J	MGI:3621818
ht4	Ikbkg^tm1Mpa/Ikbkg^+	involves: C57BL/6	MGI:3844910

Genotype
MGI:5543237

ht1

• Allelic Composition: Ikbkg^tm1.1Dwat/Ikbkg⁺
• Genetic Background: B6.Cg-Ikbkg^tm1.1Dwat

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

reproductive system

abnormal fertility/fecundity ( J:202106 )

♀ • difficult fecundancy with varying time between litters

immune system

enlarged spleen ( J:202106 )

♀ • greatly, due to an abundance of Gr1+CD11b+ cells

decreased B cell number ( J:202106 )

♀ • in the spleen

integument

hyperkeratosis ( J:202106 )

♀ • with elongated rete ridges

parakeratosis ( J:202106 )

♀ • with elongated rete ridges

spontaneous skin ulceration ( J:202106 )

♀

hematopoietic system

enlarged spleen ( J:202106 )

♀ • greatly, due to an abundance of Gr1+CD11b+ cells

decreased B cell number ( J:202106 )

♀ • in the spleen

growth/size/body

enlarged spleen ( J:202106 )

♀ • greatly, due to an abundance of Gr1+CD11b+ cells

Genotype
MGI:3808878

ht2

• Allelic Composition: Ikbkg^m1Btlr/Ikbkg⁺
• Genetic Background: C57BL/6J-Ikbkg^m1Btlr

reproductive system

reduced female fertility ( J:139558 )

♀ • female mice heterozygous for this mutation are poor breeders

Genotype
MGI:3621818

ht3

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

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

Genotype
MGI:3844910

ht4

• Allelic Composition: Ikbkg^tm1Mpa/Ikbkg⁺
• Genetic Background: involves: C57BL/6

mortality/aging

postnatal lethality, incomplete penetrance ( J:63055 )

♀ • 19 of 22 mice die between 6-10 days of age

growth/size/body

postnatal growth retardation ( J:63055 )

♀ • 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

abnormal dermal pigmentation ( J:63055 )

♀ • increased numbers of phagocytes containing melanosome complexes are found in the dermis

abnormal epidermal pigmentation ( J:63055 )

♀ • 3-4 day old mice have skin with areas of reduced or absent pigmentation

immune system

skin inflammation ( J:63055 )

♀ • 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

increased keratinocyte apoptosis ( J:63055 )

♀ • 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

skin inflammation ( J:63055 )

♀ • 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

retarded hair growth ( J:63055 )

♀ • hair growth is retarded on the scaly patches of skin present on neonates

♀ • the few survivors continue to display patches lacking hair growth

abnormal epidermis stratum basale morphology ( J:63055 )

♀ • 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

parakeratosis ( J:63055 )

♀ • keratinocytes in the cornified layer of 8 day old mice contains cell bodies and nuclei

abnormal epidermis suprabasal layer morphology ( J:63055 )

♀ • the suprabasal layer of 8 day old mice is thicker than controls

abnormal keratinocyte morphology ( J:63055 )

♀ • keratinocytes in the epidermis have abnormal tonofilament structure and no desmosomes

thick epidermis ( J:63055 )

♀ • the epidermis of 8 day old mice is thicker than controls

scaly skin ( J:63055 )

♀ • skin lacking pigmentation becomes hard, inflexible and scaly by 7 days after birth

abnormal dermal pigmentation ( J:63055 )

♀ • increased numbers of phagocytes containing melanosome complexes are found in the dermis

abnormal epidermal pigmentation ( J:63055 )

♀ • 3-4 day old mice have skin with areas of reduced or absent pigmentation

cellular

increased keratinocyte apoptosis ( J:63055 )

♀ • 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		DO ID	OMIM ID(s)	Ref(s)
Bloch-Sulzberger syndrome		DOID:12305	OMIM:308300	J:63055