Phenotypes associated with this allele

• Allele Symbol: Krt17^tm1Cou
• Allele Name: targeted mutation 1, Pierre A Coulombe
• Allele ID: MGI:2651542
• Summary: 4 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Krt17^tm1Cou/Krt17^tm1Cou	B6.129S2(D2)-Krt1-17^tm1Cou	MGI:2651544
hm2	Krt17^tm1Cou/Krt17^tm1Cou	involves: 129S2/SvPas	MGI:2651545
hm3	Krt17^tm1Cou/Krt17^tm1Cou	involves: 129S2/SvPas * C57BL/6 * DBA/2	MGI:2651543
cx4	Krt17^tm1Cou/Krt17^tm1Cou Krt6a/Krt6b^tm1Cou/Krt6a/Krt6b^tm1Cou Krt6a/Krt6b^tm1Cou/Krt6a/Krt6b^tm1Cou	involves: 129S2/SvPas * C57BL/6	MGI:3582966

Genotype
MGI:2651544

hm1

• Allelic Composition: Krt17^tm1Cou/Krt17^tm1Cou
• Genetic Background: B6.129S2(D2)-Krt1-17^tm1Cou

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

integument

alopecia ( J:82089 )

• initially fail to develop a full coat of hair

• hair phenotype improves after 3 weeks of age with recovery "peaking" at 30 days

• recovery corresponds to first postnatal anagen phase of hair cycle

Genotype
MGI:2651545

hm2

• Allelic Composition: Krt17^tm1Cou/Krt17^tm1Cou
• Genetic Background: involves: 129S2/SvPas

integument

integument phenotype ( J:82089 )

N • no detectable skin phenotype

Genotype
MGI:2651543

hm3

• Allelic Composition: Krt17^tm1Cou/Krt17^tm1Cou
• Genetic Background: involves: 129S2/SvPas * C57BL/6 * DBA/2

pigmentation

abnormal hair follicle melanin granule morphology ( J:82089 )

• aggregates of melanin pigment at points along follicle

integument

increased hair follicle apoptosis ( J:82089 )

• in some follicles, epithelial cells of matrix in hair bulbs undergo massive destruction by apoptosis

alopecia ( J:82089 )

• a subset of mutants initially fail to develop a full coat of hair

• hair phenotype improves after 3 weeks of age with recovery "peaking" at 30 days

• recovery corresponds to first postnatal anagen phase of hair cycle

brittle hair ( J:82089 )

• hair is fragile with breaks in the hair shaft

• hairs are 3-fold more likely to break when pulled than controls

abnormal hair shaft morphology ( J:82089 )

• breaks or ruptures of hair shaft above bulb region

• hair prone to breaking

abnormal hair medulla ( J:82089 )

• cell lysis and pyknotic nuclei within the lower medulla in a subset of hair follicles

abnormal hair follicle morphology ( J:82089 )

• cellular degeneration seen in all compartments of follicles and follicle length is slightly shorter

• ovoid bodies composed of multiple eosinophilic matrix epithelial cells found on the posterior aspect of some hair bulbs

• follicular alterations increase from 3 to 10 days of age

abnormal hair follicle melanin granule morphology ( J:82089 )

• aggregates of melanin pigment at points along follicle

abnormal hair follicle matrix region morphology ( J:82089 )

• in some follicles, epithelial cells of matrix in hair bulbs undergo massive destruction by apoptosis

hair follicle degeneration ( J:82089 )

• severe cases exhibit degenerating hair follicles that coexist with normal follicles

absent vibrissae ( J:82089 )

• often missing on either side of the nose in mutants with severe alopecia

abnormal hair cycle ( J:82089 )

• individual hair follicles are often at different phases of their cycle in 31 day old mutants, indicating impaired progression through the hair cycle

cellular

increased hair follicle apoptosis ( J:82089 )

• in some follicles, epithelial cells of matrix in hair bulbs undergo massive destruction by apoptosis

Genotype
MGI:3582966

cx4

• Allelic Composition: Krt17^tm1Cou/Krt17^tm1Cou; Krt6a/Krt6b^tm1Cou/Krt6a/Krt6b^tm1Cou; Krt6a/Krt6b^tm1Cou/Krt6a/Krt6b^tm1Cou
• Genetic Background: involves: 129S2/SvPas * C57BL/6

mortality/aging

postnatal lethality, complete penetrance ( J:95390 )

• triple homozygotes usually die between the first and fourth day after birth

craniofacial

abnormal palate morphology ( J:95390 )

• severe lysis and inflammatory changes in the epithelium of the upper palate

abnormal tongue epithelium morphology ( J:95390 )

• dorsal tongue epithelium destroyed at birth

• severe lysis and inflammatory changes

digestive/alimentary system

abnormal palate morphology ( J:95390 )

• severe lysis and inflammatory changes in the epithelium of the upper palate

abnormal tongue epithelium morphology ( J:95390 )

• dorsal tongue epithelium destroyed at birth

• severe lysis and inflammatory changes

integument

abnormal nail morphology ( J:95390 )

• cell lysis in the nail bed affecting the lowermost suprabasal layers of the epithelium

growth/size/body

abnormal palate morphology ( J:95390 )

• severe lysis and inflammatory changes in the epithelium of the upper palate

abnormal tongue epithelium morphology ( J:95390 )

• dorsal tongue epithelium destroyed at birth

• severe lysis and inflammatory changes

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
pachyonychia congenita		DOID:0050449	OMIM:PS167200	J:95390