Phenotypes associated with this allele

• Allele Symbol: Ctsl^nkt
• Allele Name: nackt
• Allele ID: MGI:1889860
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Ctsl^nkt/Ctsl^nkt	B6.Cg-Ctsl^nkt	MGI:3716767
hm2	Ctsl^nkt/Ctsl^nkt	C.Cg-Ctsl^nkt	MGI:3716769
hm3	Ctsl^nkt/Ctsl^nkt	either: (involves: 129S2/SvPas * BALB/c) or (involves: 129S2/SvPas * C57BL/6) or (involves: 129S2/SvPas * DBA/2)	MGI:2175823

Genotype
MGI:3716767

hm1

• Allelic Composition: Ctsl^nkt/Ctsl^nkt
• Genetic Background: B6.Cg-Ctsl^nkt

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

growth/size/body

dental pulp necrosis ( J:78460 )

• areas of necrosis develop in molar pulp cavities by 1 year of age

periodontal ligament necrosis ( J:78460 )

• areas of necrosis develop by 1 year of age

abnormal external auditory canal morphology ( J:78460 )

• abnormal accumulation of keratin in the external ear canal

decreased body size ( J:78460 )

• appear runted from birth to about 7 days

behavior/neurological

excessive scratching ( J:78460 )

• severely pruritic by 3 months of age

immune system

enlarged lymph nodes ( J:78460 )

• enlarged regional lymph nodes eventually develop

dermatitis ( J:78460 )

• marked infiltration of the dermis by inflammatory cells

hearing/vestibular/ear

abnormal external auditory canal morphology ( J:78460 )

• abnormal accumulation of keratin in the external ear canal

vision/eye

cornea opacity ( J:78460 )

• often develops

craniofacial

dental pulp necrosis ( J:78460 )

• areas of necrosis develop in molar pulp cavities by 1 year of age

periodontal ligament necrosis ( J:78460 )

• areas of necrosis develop by 1 year of age

abnormal external auditory canal morphology ( J:78460 )

• abnormal accumulation of keratin in the external ear canal

endocrine/exocrine glands

enlarged sebaceous gland ( J:78460 )

• by 15 days of age

integument

integument phenotype ( J:78460 )

N • normal vibrissae and nails

enlarged sebaceous gland ( J:78460 )

• by 15 days of age

dermatitis ( J:78460 )

• marked infiltration of the dermis by inflammatory cells

abnormal coat/ hair morphology ( J:78460 )

• never show normal, healthy fur

abnormal hair growth ( J:78460 )

alopecia ( J:78460 )

• focal alopecia

• bald patches around eyes and dorsal cranium

delayed hair appearance ( J:78460 )

• appearance of hair delayed until around 7 days

• in a non pathogen free environment, remain nearly devoid of hair for about 3 weeks

sparse hair ( J:78460 )

• hair continues to be sparse throughout life

abnormal hair shaft morphology ( J:78460 )

• defective, often twisted

abnormal hair follicle development ( J:78460 )

• delayed morphogenesis of hair follicles seen at 6 days of age

• density of hair follicles is reduced

• follicular accumulation of keratin

• abnormal expression of K6 (keratin) in hair follicles at 21 days of age

dilated piliary canal ( J:78460 )

• dilation of the hair canal

abnormal hair cycle catagen phase ( J:78460 )

• onset of first catagen cycle is delayed

thick dermal layer ( J:78460 )

• slight thickening in mice raised in a pathogen free environment

orthokeratosis ( J:78460 )

• orthokeratotic hyperkeratosis

acanthosis ( J:78460 )

epidermal hyperplasia ( J:78460 )

• moderately hyperplastic

skin lesions ( J:78460 )

• ulcerations develop

• less severe ventrally

skeleton

dental pulp necrosis ( J:78460 )

• areas of necrosis develop in molar pulp cavities by 1 year of age

periodontal ligament necrosis ( J:78460 )

• areas of necrosis develop by 1 year of age

Genotype
MGI:3716769

hm2

• Allelic Composition: Ctsl^nkt/Ctsl^nkt
• Genetic Background: C.Cg-Ctsl^nkt

growth/size/body

dental pulp necrosis ( J:78460 )

• areas of necrosis develop in molar pulp cavities by 1 year of age

periodontal ligament necrosis ( J:78460 )

• areas of necrosis develop by 1 year of age

abnormal external auditory canal morphology ( J:78460 )

• abnormal accumulation of keratin in the external ear canal

decreased body size ( J:78460 )

• appear runted from birth to about 7 days

behavior/neurological

excessive scratching ( J:78460 )

• severely pruritic by 3 months of age

immune system

abnormal leukocyte cell number ( J:99009 )

decreased CD4-positive, alpha-beta T cell number ( J:99009 )

• by percent although absolute numbers are approximately normal

increased CD8-positive, alpha-beta T cell number ( J:99009 )

abnormal immune system organ morphology ( J:78460 )

abnormal thymus morphology ( J:99009 )

• less extra-cellular matrix glycoprotein expression

abnormal thymus lobule morphology ( J:99009 )

• lobular structure tends to be lost due to diminished septal thickness

enlarged thymus cortex ( J:99009 )

• enlarged cortex

abnormal thymus corticomedullary boundary morphology ( J:99009 )

• ill-defined corticomedullary junction

abnormal lymph node morphology ( J:99009 )

• increased expression of extracellular matrix glycoprotein

abnormal lymph node cortex morphology ( J:99009 )

• subscapular follicle-like structures in the upper cortex without germinal centers

• enlarged paracortical area compressing the cortical areas and projecting into the medulla

dilated lymph node medullary sinus ( J:99009 )

• medullary area with dilated sinuses

enlarged lymph nodes ( J:78460 , J:99009 )

• enlarged regional lymph nodes eventually develop (J:78460)

dermatitis ( J:78460 )

• marked infiltration of the dermis by inflammatory cells

hearing/vestibular/ear

abnormal external auditory canal morphology ( J:78460 )

• abnormal accumulation of keratin in the external ear canal

vision/eye

cornea opacity ( J:78460 )

• often develops

craniofacial

dental pulp necrosis ( J:78460 )

• areas of necrosis develop in molar pulp cavities by 1 year of age

periodontal ligament necrosis ( J:78460 )

• areas of necrosis develop by 1 year of age

abnormal external auditory canal morphology ( J:78460 )

• abnormal accumulation of keratin in the external ear canal

endocrine/exocrine glands

abnormal thymus morphology ( J:99009 )

• less extra-cellular matrix glycoprotein expression

abnormal thymus lobule morphology ( J:99009 )

• lobular structure tends to be lost due to diminished septal thickness

enlarged thymus cortex ( J:99009 )

• enlarged cortex

abnormal thymus corticomedullary boundary morphology ( J:99009 )

• ill-defined corticomedullary junction

enlarged sebaceous gland ( J:78460 )

• by 15 days of age

hematopoietic system

abnormal thymus morphology ( J:99009 )

• less extra-cellular matrix glycoprotein expression

abnormal thymus lobule morphology ( J:99009 )

• lobular structure tends to be lost due to diminished septal thickness

enlarged thymus cortex ( J:99009 )

• enlarged cortex

abnormal thymus corticomedullary boundary morphology ( J:99009 )

• ill-defined corticomedullary junction

abnormal leukocyte cell number ( J:99009 )

decreased CD4-positive, alpha-beta T cell number ( J:99009 )

• by percent although absolute numbers are approximately normal

increased CD8-positive, alpha-beta T cell number ( J:99009 )

integument

integument phenotype ( J:78460 )

N • normal vibrissae and nails

enlarged sebaceous gland ( J:78460 )

• by 15 days of age

dermatitis ( J:78460 )

• marked infiltration of the dermis by inflammatory cells

abnormal coat/ hair morphology ( J:78460 )

• never show normal, healthy fur

abnormal hair growth ( J:78460 )

alopecia ( J:78460 )

• focal alopecia

• bald patches around eyes and dorsal cranium

delayed hair appearance ( J:78460 )

• appearance of hair delayed until around 7 days

• in a non pathogen free environment, remain nearly devoid of hair for about 3 weeks

sparse hair ( J:78460 )

• hair continues to be sparse throughout life

abnormal hair shaft morphology ( J:78460 )

• defective, often twisted

abnormal hair follicle development ( J:78460 )

• delayed morphogenesis of hair follicles seen at 6 days of age

• density of hair follicles is reduced

• follicular accumulation of keratin

• abnormal expression of K6 (keratin) in hair follicles at 21 days of age

dilated piliary canal ( J:78460 )

• dilation of the hair canal

abnormal hair cycle catagen phase ( J:78460 )

• onset of first catagen cycle is delayed

thick dermal layer ( J:78460 )

• slight thickening in mice raised in a pathogen free environment

orthokeratosis ( J:78460 )

• orthokeratotic hyperkeratosis

acanthosis ( J:78460 )

thick epidermis ( J:78460 )

• moderately hyperplastic

skin lesions ( J:78460 )

• ulcerations develop

• less severe ventrally

skeleton

dental pulp necrosis ( J:78460 )

• areas of necrosis develop in molar pulp cavities by 1 year of age

periodontal ligament necrosis ( J:78460 )

• areas of necrosis develop by 1 year of age

Genotype
MGI:2175823

hm3

• Allelic Composition: Ctsl^nkt/Ctsl^nkt
• Genetic Background: either: (involves: 129S2/SvPas * BALB/c) or (involves: 129S2/SvPas * C57BL/6) or (involves: 129S2/SvPas * DBA/2)

mortality/aging

postnatal lethality, incomplete penetrance ( J:54856 )

• 50% lethality within 3 weeks if suckled by a heterozygous dam in a non pathogen free environment

• most are dead by 10 days if suckled by a homozygous dam in a non pathogen free environment

growth/size/body

cachexia ( J:54856 )

• apparent by 3 weeks of age in a non pathogen free environment

postnatal growth retardation ( J:54856 )

• apparent by 3 weeks of age in a non pathogen free environment

immune system

decreased CD4-positive, alpha-beta T cell number ( J:54856 )

• deficiency is observed neonatally and persists for at least 9 months

abnormal immune system organ morphology ( J:54856 )

thymus atrophy ( J:54856 )

lymph node hyperplasia ( J:54856 )

• 4 fold increase in cell numbers in lymph nodes

increased inflammatory response ( J:54856 )

lymph node inflammation ( J:54856 )

• dermatopathic lymphadenitis

liver inflammation ( J:54856 )

• hepatitis by 3 weeks of age in a non pathogen free environment

dermatitis ( J:54856 )

• exfoliative dermatitis

behavior/neurological

excessive scratching ( J:54856 )

• pruritus - generalized itching by 12 days

liver/biliary system

liver inflammation ( J:54856 )

• hepatitis by 3 weeks of age in a non pathogen free environment

hematopoietic system

thymus atrophy ( J:54856 )

decreased CD4-positive, alpha-beta T cell number ( J:54856 )

• deficiency is observed neonatally and persists for at least 9 months

endocrine/exocrine glands

thymus atrophy ( J:54856 )

enlarged sebaceous gland ( J:54856 )

• hypertrophy

integument

enlarged sebaceous gland ( J:54856 )

• hypertrophy

dermatitis ( J:54856 )

• exfoliative dermatitis

abnormal coat/ hair morphology ( J:54856 )

abnormal hair growth ( J:54856 )

alopecia ( J:54856 )

• diffuse alopecia

• bald patches around eyes and neck

sparse hair ( J:54856 )

• normal up to 12 days then becoming sparse

rough coat ( J:54856 )

• normal up to 12 days then becoming rough

abnormal hair follicle morphology ( J:54856 )

• follicular orthokeratosis

orthokeratosis ( J:54856 )

• epidermal orthokeratosis

hypergranulosis ( J:54856 )

acanthosis ( J:54856 )

epidermal hyperplasia ( J:54856 )

• hyperplastic

skin lesions ( J:54856 )

• ulcerative skin lesions in adults raised in a non pathogen free environment

• less severe ventrally