Phenotypes Associated with This Genotype

Genotype
MGI:4867484

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

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

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