Phenotypes associated with this allele

• Allele Symbol: Gjb6^tm2.2Kwi
• Allele Name: targeted mutation 2.2, Klaus Willecke
• Allele ID: MGI:5607781
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Gjb6^tm2.2Kwi/Gjb6^tm2.2Kwi	involves: 129P2/OlaHsd * BALB/c * C57BL/6 * CD-1 * SJL	MGI:5607782

Genotype
MGI:5607782

hm1

• Allelic Composition: Gjb6^tm2.2Kwi/Gjb6^tm2.2Kwi
• Genetic Background: involves: 129P2/OlaHsd * BALB/c * C57BL/6 * CD-1 * SJL

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

endocrine/exocrine glands

abnormal sebaceous gland morphology ( J:208123 )

• transit amplifying cells of the sebaceous glands are hyperproliferative

increased sebocyte number ( J:208123 )

• the number of sebocytes is increased by a factor of 3.5

enlarged sebaceous gland ( J:208123 )

• enlargement of hair follicle associated sebaceous glands

• however, meibomian glands appear normal

hearing/vestibular/ear

decreased threshold for auditory brainstem response ( J:208123 )

• mice show lower ABR thresholds in response to high-frequency tone bursts and Distortion Product Otoacoustic Emissions (DPOAE) amplitudes are improved

increased or absent threshold for auditory brainstem response ( J:208123 )

• mice show elevated ABR thresholds in response to low-frequency tone bursts

impaired hearing ( J:208123 )

integument

abnormal sebaceous gland morphology ( J:208123 )

• transit amplifying cells of the sebaceous glands are hyperproliferative

increased sebocyte number ( J:208123 )

• the number of sebocytes is increased by a factor of 3.5

enlarged sebaceous gland ( J:208123 )

• enlargement of hair follicle associated sebaceous glands

• however, meibomian glands appear normal

greasy coat ( J:208123 )

• greasy fur that is already seen during the first hair cycle on P10

• however, no abnormalities of hair follicle organization or number of hair follicles is seen, or in the frequencies of hair types

abnormal epidermal layer morphology ( J:208123 )

• some parts of the palmoplantar epidermis are slightly thickened and hyperproliferative

hyperkeratosis ( J:208123 )

• mild hyperkeratosis of palmoplantar epidermis

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Clouston syndrome		DOID:14693	OMIM:129500	J:208123