Phenotypes associated with this allele

• Allele Symbol: Gjb2⁺
• Allele Name: wild type
• Allele ID: MGI:2430617
• Summary: 7 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Gjb2^tm3(Gjb1)Kwi/Gjb2^+	involves: 129P2/OlaHsd	MGI:5441205
ht2	Gjb2^tm3.3(Gjb1)Kwi/Gjb2^+	involves: 129P2/OlaHsd * BALB/c * C57BL/6	MGI:5441210
ht3	Gjb2^tm3.2(Gjb1)Kwi/Gjb2^+	involves: 129P2/OlaHsd * BALB/c * C57BL/6 * SJL	MGI:5441209
cn4	Gjb2^tm3.1(Gjb1)Kwi/Gjb2^+ Tg(Prrx1-cre)1Cjt/0	involves: 129P2/OlaHsd * C57BL/6 * C57BL/6J * SJL * SJL/J	MGI:5441208
cn5	Gjb2^tm3.1(Gjb1)Kwi/Gjb2^+ Tg(Tek-cre)1Arnd/0	involves: 129P2/OlaHsd * C57BL/6 * CBA * DBA/2 * SJL	MGI:5441206
cn6	Gjb2^tm3.1(Gjb1)Kwi/Gjb2^+ Tg(KRT5-cre)5132Jlj/0	involves: 129P2/OlaHsd * C57BL/6 * DBA/2J * SJL	MGI:5441207
cn7	Gjb2^tm2.2Kwi/Gjb2^+ Tg(Pgk1-cre)1Lni/0	involves: 129/Sv * 129P2/OlaHsd * BALB/c * C57BL/6	MGI:4867484

Genotype
MGI:5441205

ht1

• Allelic Composition: Gjb2^tm3(Gjb1)Kwi/Gjb2⁺
• Genetic Background: involves: 129P2/OlaHsd

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

normal phenotype

no abnormal phenotype detected ( J:188626 )

• mice are viable and do not show any phenotypic abnormalities

Genotype
MGI:5441210

ht2

• Allelic Composition: Gjb2^{tm3.3(Gjb1)Kwi}/Gjb2⁺
• Genetic Background: involves: 129P2/OlaHsd * BALB/c * C57BL/6

mortality/aging

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

homeostasis/metabolism

lymphedema ( J:188626 )

Genotype
MGI:5441209

ht3

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

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 )

growth/size/body

absent mandible ( J:188626 )

Genotype
MGI:5441208

cn4

• Allelic Composition: Gjb2^{tm3.1(Gjb1)Kwi}/Gjb2⁺; Tg(Prrx1-cre)1Cjt/0
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * C57BL/6J * SJL * SJL/J

normal phenotype

no abnormal phenotype detected ( J:188626 )

• mice are viable and show no obvious phenotypic abnormalities

Genotype
MGI:5441206

cn5

• Allelic Composition: Gjb2^{tm3.1(Gjb1)Kwi}/Gjb2⁺; Tg(Tek-cre)1Arnd/0
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * CBA * DBA/2 * SJL

normal phenotype

no abnormal phenotype detected ( J:188626 )

• mice do not exhibit any developmental abnormalities

Genotype
MGI:5441207

cn6

• Allelic Composition: Gjb2^{tm3.1(Gjb1)Kwi}/Gjb2⁺; Tg(KRT5-cre)5132Jlj/0
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * DBA/2J * SJL

mortality/aging

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

• mice die between E16 and E18.5

immune system

abnormal lymphatic vessel morphology ( J:188626 )

• mice exhibit severely reduced dermal lymphatic capilliaries compared with control mice

homeostasis/metabolism

lymphedema ( J:188626 )

• severe

craniofacial

absent mandible ( J:188626 )

skeleton

absent mandible ( J:188626 )

growth/size/body

absent mandible ( J:188626 )

Genotype
MGI:4867484

cn7

• Allelic Composition: Gjb2^tm2.2Kwi/Gjb2⁺; Tg(Pgk1-cre)1Lni/0
• Genetic Background: involves: 129/Sv * 129P2/OlaHsd * BALB/c * C57BL/6

mortality/aging

postnatal lethality, incomplete penetrance ( J:166732 )

• some mice die within the first days after birth

prenatal lethality, incomplete penetrance ( J:166732 )

• fewer than expected mice are born

• Background Sensitivity: even fewer mice are born on a predominantly C57BL/6 background compared with a predominantly 129/Sv background

reproductive system

female infertility ( J:166732 )

♀ • female mice fail to produce offspring when mated to wild-type males

hearing/vestibular/ear

decreased endocochlear potential ( J:166732 )

• Background Sensitivity: more pronounced in mice on a predominantly 129/Sv background compared with mice on a predominantly C57BL/6 background

increased or absent threshold for auditory brainstem response ( J:166732 )

• Background Sensitivity: more pronounced in mice on a predominantly 129/Sv background compared with mice on a predominantly C57BL/6 background

impaired hearing ( J:166732 )

limbs/digits/tail

abnormal tail morphology ( J:166732 )

• on a predominantly C57BL/6 background, mice exhibit wounded tails and annular restrictions compared with wild-type mice

short tail ( J:166732 )

• on a predominantly C57BL/6 background

growth/size/body

decreased body size ( J:166732 )

• at P4 and during adulthood, on a predominantly C57BL/6 background

homeostasis/metabolism

impaired skin barrier function ( J:166732 )

vision/eye

vision/eye phenotype ( J:166732 )

N • unlike patients with keratitis-ichthyosis-deafness (KID) syndrome, mice do not exhibit corneal defects

integument

increased keratinocyte proliferation ( J:166732 )

• Background Sensitivity: less pronounced in mice on a predominantly 129/Sv background compared with mice on a predominantly C57BL/6 background

impaired skin barrier function ( J:166732 )

abnormal nail morphology ( J:166732 )

• on a predominantly C57BL/6 background, mice exhibit abnormal feet nail cases compared with wild-type mice

abnormal skin morphology ( J:166732 )

• Background Sensitivity: mice on a predominantly 129/Sv background exhibit milder skin defects compared with mice on a predominantly C57BL/6 background

hyperkeratosis ( J:166732 )

• hyperkeratotic feet on a predominantly C57BL/6 background

epidermal hyperplasia ( J:166732 )

• mice exhibit increased K1 expression indicating strong epidermal hyperplasia in the spinous and granulous layers compared with wild-type mice

• Background Sensitivity: mice on a predominantly 129/Sv background exhibit milder epidermal hyperplasia compared with mice on a predominantly C57BL/6 background

• however, the basal layer is unaffected

thick epidermis ( J:166732 )

• on the feet of mice with a predominantly C57BL/6 background

scaly skin ( J:166732 )

• on a predominantly C57BL/6 background

shiny skin ( J:166732 )

• on a predominantly C57BL/6 background

cellular

increased keratinocyte proliferation ( J:166732 )

• Background Sensitivity: less pronounced in mice on a predominantly 129/Sv background compared with mice on a predominantly C57BL/6 background

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
autosomal dominant keratitis-ichthyosis-deafness syndrome		DOID:0060871	OMIM:148210	J:166732