Phenotypes associated with this allele

• Allele Symbol: Ctsl^tm1Alpk
• Allele Name: targeted mutation 1, AstraZeneca UK Ltd
• Allele ID: MGI:3583996
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Ctsl^tm1Alpk/Ctsl^tm1Alpk	B6.129P2-Ctsl^tm1Alpk	MGI:3584505
hm2	Ctsl^tm1Alpk/Ctsl^tm1Alpk	involves: 129P2/OlaHsd * C57BL/6	MGI:3584503
ht3	Ctsl^tm1Alpk/Ctsl^+	involves: 129P2/OlaHsd * C57BL/6	MGI:3584504

Genotype
MGI:3584505

hm1

• Allelic Composition: Ctsl^tm1Alpk/Ctsl^tm1Alpk
• Genetic Background: B6.129P2-Ctsl^tm1Alpk

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

immune system

granulomatous inflammation ( J:99755 )

integument

alopecia ( J:99755 )

• onset of hair loss occurs at weaning with total baldness seen at 8 weeks

• Background Sensitivity: hair loss occurs earlier than in a mixed 129P2/OlaHsd and C57BL/6 background

abnormal hair follicle orientation ( J:99755 )

• abnormal hair follicle orientation is seen with at least one case where the follicle was oriented parallel to the plane of the epidermis

thick epidermis ( J:99755 )

• slight epidermal thickening is seen at 4 months

abnormal keratinocyte physiology ( J:99755 )

• abnormal keratinization results in plugs of keratin in the follicles

Genotype
MGI:3584503

hm2

• Allelic Composition: Ctsl^tm1Alpk/Ctsl^tm1Alpk
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6

immune system

decreased osteoclast cell number ( J:99755 )

• osteoclast numbers are reduced

abnormal osteoclast physiology ( J:99755 )

• erosion depth is reduced and the number of trabecular skeletons appear to be decreased

granulomatous inflammation ( J:99755 )

• at 9 months of age, dermal and hypodermal granulomata are frequently seen

folliculitis ( J:99755 )

• occasional subacute folliculitis, sometimes accompanied by subacute dermatitis, is seen

dermatitis ( J:99755 )

• ubacute dermatitis is sometimes seen with subacute folliculitis

skeleton

decreased osteoclast cell number ( J:99755 )

• osteoclast numbers are reduced

abnormal osteoclast physiology ( J:99755 )

• erosion depth is reduced and the number of trabecular skeletons appear to be decreased

abnormal trabecular bone morphology ( J:99755 )

• the amount of trabecular bone is significantly reduced; however following ovariectomy the extent of bone loss is reduced in homozygotes compared to wild-type mice (reduction in bone volume of 27.8% compared to 51.7% in wild-type)

abnormal cartilage morphology ( J:99755 )

• the mineralized cartilage zone is disorganized

decreased long bone epiphyseal plate size ( J:99755 )

• the growth plate appears thinner compared to wild-type mice

hematopoietic system

decreased osteoclast cell number ( J:99755 )

• osteoclast numbers are reduced

abnormal osteoclast physiology ( J:99755 )

• erosion depth is reduced and the number of trabecular skeletons appear to be decreased

integument

dermatitis ( J:99755 )

• ubacute dermatitis is sometimes seen with subacute folliculitis

abnormal coat/ hair morphology ( J:99755 )

abnormal coat appearance ( J:99755 )

• at weaning, the coat appears dull

abnormal hair growth ( J:99755 )

alopecia ( J:99755 )

• at 3 months of age progressive hair loss originating dorsally is seen resulting in complete hair loss at 9 months in females; however, males retain some sparse patches of hair

short hair ( J:99755 )

• at weaning, hair length is reduced

greasy coat ( J:99755 )

• at weaning, the coat appears greasy

abnormal hair shaft morphology ( J:99755 )

• at 3 and 9 months of age, a high incidence of severe hair shaft fragmentation is seen

abnormal hair follicle morphology ( J:99755 )

• hair follicle expansions containing keratinized debris are seen adjacent and exterior to the sebaceous glands in many homozygotes at 3 months of age

folliculitis ( J:99755 )

• occasional subacute folliculitis, sometimes accompanied by subacute dermatitis, is seen

abnormal hair follicle orientation ( J:99755 )

short vibrissae ( J:99755 )

sparse vibrissae ( J:99755 )

abnormal hair cycle ( J:99755 )

• at 9 months few anagen follicles are present and those that are appear somewhat atrophic

epidermal hyperplasia ( J:99755 )

• at 9 months of age, diffuse epidermal hyperplasia, with epidermal thickness increased to 4 - 6 cells, is seen

Genotype
MGI:3584504

ht3

• Allelic Composition: Ctsl^tm1Alpk/Ctsl⁺
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6

skeleton

abnormal trabecular bone morphology ( J:99755 )

• the amount of trabecular bone is significantly reduced; however following ovariectomy the extent of bone loss is reduced in heterozygotes compared to wild-type mice (reduction in bone volume of 36.17% compared to 51.7% in wild-type)

abnormal cartilage morphology ( J:99755 )

• the mineralized cartilage zone is disorganized

integument

focal dorsal hair loss ( J:99755 )

• at 9 months of age, heterozygous females have a bald area covering the central dorsal surface and males have small bald patches