Phenotypes associated with this allele

• Allele Symbol: Gjb3^tm2.1Kwi
• Allele Name: targeted mutation 2.1, Klaus Willecke
• Allele ID: MGI:3711982
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Gjb3^tm2.1Kwi/Gjb3^tm2.1Kwi	involves: 129P2/OlaHsd * C57BL/6	MGI:3712798
ht2	Gjb3^tm2.1Kwi/Gjb3^+	involves: 129P2/OlaHsd * C57BL/6	MGI:3712799
ht3	Gjb3^tm1Kwi/Gjb3^tm2.1Kwi	involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:3712801

Genotype
MGI:3712798

hm1

• Allelic Composition: Gjb3^tm2.1Kwi/Gjb3^tm2.1Kwi
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6

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

mortality/aging

embryonic lethality between implantation and somite formation, complete penetrance ( J:121802 )

• living embryos are found on E4.5 and 7.5, but not on E8.5 or beyond

Genotype
MGI:3712799

ht2

• Allelic Composition: Gjb3^tm2.1Kwi/Gjb3⁺
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6

homeostasis/metabolism

enhanced wound healing ( J:121802 )

• tail incision wounds close 1 day earlier than in wild-type

• fusion of the epidermis in mutated animals results in distinct stratification at day 3 of healing process, while this stage in not reached until day 4 in wild-type mice

integument

epidermal hyperplasia ( J:121802 )

• hyperproliferation of keratinocytes is seen in ~5% of tail skin but never in wild-type tail skin

thick epidermis ( J:121802 )

• thickening of the epidermis at site of wound healing is observed

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
erythrokeratodermia variabilis		DOID:0050467	OMIM:PS133200	J:121802

Genotype
MGI:3712801

ht3

• Allelic Composition: Gjb3^tm1Kwi/Gjb3^tm2.1Kwi
• Genetic Background: involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ * C57BL/6

mortality/aging

mortality/aging ( J:121802 )

N • mice survive to adulthood