Phenotypes associated with this allele

• Allele Symbol: Gjb3⁺
• Allele Name: wild type
• Allele ID: MGI:2430618
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Gjb3^tm1.1(KOMP)Vlcg/Gjb3^+	C57BL/6N-Gjb3^tm1.1(KOMP)Vlcg/Ucd	MGI:5797558
ht2	Gjb3^tm2.1Kwi/Gjb3^+	involves: 129P2/OlaHsd * C57BL/6	MGI:3712799

Genotype
MGI:5797558

ht1

• Allelic Composition: Gjb3^{tm1.1(KOMP)Vlcg}/Gjb3⁺
• Genetic Background: C57BL/6N-Gjb3^{tm1.1(KOMP)Vlcg}/Ucd
• Cell Lines: 15368A-A7

Data Sources

IMPC Data for Gjb3

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

growth/size/body

microcephaly ( J:211773 )

IMPC - UCD

hearing/vestibular/ear

abnormal auditory brainstem response ( J:211773 )

IMPC - UCD

hematopoietic system

increased mean corpuscular volume ( J:211773 )

♀

IMPC - UCD

limbs/digits/tail

syndactyly ( J:211773 )

IMPC - UCD

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