About   Help   FAQ
Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Gjb2tm2.2Kwi
targeted mutation 2.2, Klaus Willecke
MGI:4867482
Summary 1 genotype
Jump to Allelic Composition Genetic Background Genotype ID
cn1
Gjb2tm2.2Kwi/Gjb2+
Tg(Pgk1-cre)1Lni/0
involves: 129/Sv * 129P2/OlaHsd * BALB/c * C57BL/6 MGI:4867484


Genotype
MGI:4867484
cn1
Allelic
Composition
Gjb2tm2.2Kwi/Gjb2+
Tg(Pgk1-cre)1Lni/0
Genetic
Background
involves: 129/Sv * 129P2/OlaHsd * BALB/c * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gjb2tm2.2Kwi mutation (1 available); any Gjb2 mutation (13 available)
Tg(Pgk1-cre)1Lni mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• some mice die within the first days after birth
• 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 mice fail to produce offspring when mated to wild-type males

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

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

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

homeostasis/metabolism

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

integument
• Background Sensitivity: less pronounced in mice on a predominantly 129/Sv background compared with mice on a predominantly C57BL/6 background
• on a predominantly C57BL/6 background, mice exhibit abnormal feet nail cases compared with wild-type mice
• Background Sensitivity: mice on a predominantly 129/Sv background exhibit milder skin defects compared with mice on a predominantly C57BL/6 background
• hyperkeratotic feet on a predominantly C57BL/6 background
• 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
• on the feet of mice with a predominantly C57BL/6 background
• on a predominantly C57BL/6 background
• on a predominantly C57BL/6 background

cellular
• 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
OMIM ID Ref(s)
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant 148210 J:166732





Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
04/19/2016
MGI 6.03
The Jackson Laboratory