Phenotypes Associated with This Genotype

Genotype
MGI:3588971

• 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