Mouse Genome Informatics
cn1
    Gjb2tm2.2Kwi/Gjb2+
Tg(Pgk1-cre)1Lni/0

involves: 129/Sv * 129P2/OlaHsd * BALB/c * C57BL/6
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
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 (J:166732)

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 (J:166732)

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 IDRef(s)
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant 148210 J:166732