Phenotypes associated with this allele

• Allele Symbol: Gjb3^tm1Kwi
• Allele Name: targeted mutation 1, Klaus Willecke
• Allele ID: MGI:2155738
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Gjb3^tm1Kwi/Gjb3^tm1Kwi	involves: 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:3588971
ht2	Gjb3^tm1Kwi/Gjb3^tm2.1Kwi	involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:3712801

Genotype
MGI:3588971

hm1

• Allelic Composition: Gjb3^tm1Kwi/Gjb3^tm1Kwi
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

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

mortality/aging

embryonic lethality during organogenesis, incomplete penetrance ( J:68014 )

• 60% die between E10.5 and E13.5, rest survive to adulthood

• adults do not exhibit any inner ear, hearing, skin or testis defects

embryo

abnormal allantois morphology ( J:68014 )

• allantoic mesenchyme lacks the typical fingerlike protrusions into the labyrinth at E9.5

abnormal placenta morphology ( J:68014 )

• delayed proliferative activity in E9.5 placentas

abnormal chorionic plate morphology ( J:68014 )

• chorionic plate consists of only some loosely arranged stem cells at E9.5

decreased spongiotrophoblast size ( J:68014 )

• severely reduced spongiotrophoblast size at E9.5

abnormal placenta intervillous maternal lacunae morphology ( J:68014 )

• maternal lacunas filled with blood between the spongiotrophoblast and labyrinth layers are less frequent

decreased placental labyrinth size ( J:68014 )

• severely reduced labyrinth at E9.5

small placenta ( J:68014 )

• placenta is small at E9.5 however from E10.5 onward, placentas recover progressively and reach normal size and morphology by E18.5

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
NOT	autosomal dominant nonsyndromic deafness 2A	DOID:0110558	OMIM:600101	J:68014

Genotype
MGI:3712801

ht2

• 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