Phenotypes associated with this allele

• Allele Symbol: Gjb2^{tm3.2(Gjb1)Kwi}
• Allele Name: targeted mutation 3.2, Klaus Willecke
• Allele ID: MGI:5441203
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Gjb2^tm3.2(Gjb1)Kwi/Gjb2^+	involves: 129P2/OlaHsd * BALB/c * C57BL/6 * SJL	MGI:5441209

Genotype
MGI:5441209

ht1

• Allelic Composition: Gjb2^{tm3.2(Gjb1)Kwi}/Gjb2⁺
• Genetic Background: involves: 129P2/OlaHsd * BALB/c * C57BL/6 * SJL

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

mortality/aging

lethality throughout fetal growth and development, complete penetrance ( J:188626 )

• mice die between E16.5 and E18.5

immune system

abnormal lymphatic vessel morphology ( J:188626 )

• at E14.5, mice exhibit strongly reduced or absent lymphatic capillaries unlike control mice

• however, early lymphtic anlagen develops normally

absent lymphatic vessels ( J:188626 )

• from E14.5 onward, mice lack dermal lymphatic capillaries

• at E15.5, mice lack dermal lymphatic vessels

craniofacial

absent mandible ( J:188626 )

embryo

abnormal mesenchyme morphology ( J:188626 )

• severe swelling of the subcutaneous mesenchyme at E16.5

homeostasis/metabolism

lymphedema ( J:188626 )

• severe at E14.5, E16.5 and E17.5

cardiovascular system

cardiovascular system phenotype ( J:188626 )

N • mice exhibit normal cardiovascular morphology

skeleton

absent mandible ( J:188626 )