- abnormal coat/ hair morphology / MGI
- alopecia / MGI
- sparse hair / MGI
- delayed hair appearance / MGI
- enlarged sebaceous gland / MGI
- enlarged lymph nodes / MGI
- dermatitis / MGI
- skin lesions / MGI
- epidermal hyperplasia / MGI
- thick dermal layer / MGI
- decreased body size / MGI
- corneal opacity / MGI
- excessive scratching / MGI
- acanthosis / MGI
- abnormal hair growth / MGI
- abnormal hair follicle development / MGI
- abnormal hair shaft morphology / MGI
- abnormal external auditory canal morphology / MGI
- abnormal hair cycle catagen phase / MGI
- orthokeratosis / MGI
- integument phenotype / MGI
- dental pulp necrosis / MGI
- periodontal ligament necrosis / MGI
- abnormal leukocyte cell number / MGI
- abnormal thymus morphology / MGI
- thick epidermis / MGI
- abnormal lymph node morphology / MGI
- abnormal lymph node cortex morphology / MGI
- abnormal thymus lobule morphology / MGI
- abnormal immune system organ morphology / MGI
- decreased CD4-positive, alpha beta T cell number / MGI
- increased CD8-positive, alpha-beta T cell number / MGI
- abnormal thymus corticomedullary boundary morphology / MGI
- dilated lymph node medullary sinus / MGI
- enlarged thymus cortex / MGI
- abnormal hair follicle morphology / MGI
- postnatal growth retardation / MGI
- increased inflammatory response / MGI
- liver inflammation / MGI
- thymus atrophy / MGI
- lymph node inflammation / MGI
- cachexia / MGI
- lymph node hyperplasia / MGI
- hypergranulosis / MGI
- rough coat / MGI
- postnatal lethality, incomplete penetrance / MGI
129S2.Cg-Ctslnkt/Orl
Status | Available to order |
EMMA ID | EM:01163 |
International strain name | 129S2.Cg-Ctslnkt/Orl |
Alternative name | nackt |
Strain type | Induced Mutant Strains : Radiation-induced |
Allele/Transgene symbol | Ctslnkt |
Gene/Transgene symbol | Ctsl |
Information from provider
Provider | Jean-Louis Guénet |
Provider affiliation | Institut Pasteur |
Genetic information | Molecular analysis of the coding region in Ctsl-nackt mice revealed a 118 bp deletion involving the end of exon 6 and almost all of exon 7. Western blot analysis of skin from homozygous mutant mice indicated that no stable protein is produced. |
Phenotypic information | Hair and immunological defects. Homozygotes for the mutant allele exhibit partial hair-loss, skin defects, impaired T-cell maturation, dilated cardiomyopathy, and high postnatal mortality. Mutant males show both normal and atrophic seminiferous tubules and reduced sperm production. Alopecia by day 12 around neck and eyes, skin lesions in adult mice |
Breeding history | Homozygous x heterozygous. |
References |
|
Information from EMMA
Archiving centre | Institut de Transgenose, INTRAGENE, Orléans, France |
Disease and phenotype information
MGI phenotypes (allele matching)
MGI phenotypes (gene matching)
- abnormal trabecular bone morphology / MGI
- abnormal cartilage morphology / MGI
- abnormal leukocyte cell number / MGI
- enlarged heart / MGI
- abnormal myocardial fiber morphology / MGI
- abnormal coat/ hair morphology / MGI
- folliculitis / MGI
- abnormal hair follicle morphology / MGI
- underdeveloped hair follicles / MGI
- abnormal hair follicle orientation / MGI
- alopecia / MGI
- sparse hair / MGI
- short hair / MGI
- delayed hair appearance / MGI
- abnormal hair cycle / MGI
- amyloidosis / MGI
- enlarged sebaceous gland / MGI
- abnormal thyroid gland morphology / MGI
- enlarged lymph nodes / MGI
- abnormal thymus morphology / MGI
- abnormal spermatogenesis / MGI
- scaly skin / MGI
- dermatitis / MGI
- shiny skin / MGI
- thick skin / MGI
- skin lesions / MGI
- thick epidermis / MGI
- epidermal hyperplasia / MGI
- abnormal epidermis stratum basale morphology / MGI
- hyperkeratosis / MGI
- thick dermal layer / MGI
- decreased body size / MGI
- short vibrissae / MGI
- sparse vibrissae / MGI
- absent vibrissae / MGI
- corneal opacity / MGI
- excessive scratching / MGI
- abnormal coat appearance / MGI
- abnormal osteoclast physiology / MGI
- abnormal cardiovascular system physiology / MGI
- hyperglycemia / MGI
- abnormal visceral yolk sac morphology / MGI
- postnatal growth retardation / MGI
- increased inflammatory response / MGI
- liver inflammation / MGI
- salivary gland inflammation / MGI
- acanthosis / MGI
- abnormal hair growth / MGI
- abnormal seminiferous tubule morphology / MGI
- abnormal lymph node morphology / MGI
- abnormal lymph node cortex morphology / MGI
- abnormal thymus lobule morphology / MGI
- granulomatous inflammation / MGI
- heart left ventricle hypertrophy / MGI
- increased heart rate / MGI
- abnormal immune system organ morphology / MGI
- dilated cardiomyopathy / MGI
- increased heart weight / MGI
- abnormal keratinocyte physiology / MGI
- thymus atrophy / MGI
- abnormal hair follicle development / MGI
- abnormal hair shaft morphology / MGI
- greasy coat / MGI
- lymph node inflammation / MGI
- insulitis / MGI
- abnormal heartbeat / MGI
- decreased susceptibility to autoimmune diabetes / MGI
- decreased testis weight / MGI
- increased regulatory T cell number / MGI
- decreased osteoclast cell number / MGI
- abnormal lysosome morphology / MGI
- decreased cardiac muscle contractility / MGI
- cachexia / MGI
- abnormal myocardium layer morphology / MGI
- renal/urinary system phenotype / MGI
- abnormal thyroid hormone level / MGI
- decreased thyroxine level / MGI
- decreased ventricle muscle contractility / MGI
- cardiac interstitial fibrosis / MGI
- abnormal external auditory canal morphology / MGI
- mitral valve regurgitation / MGI
- aortic valve regurgitation / MGI
- decreased long bone epiphyseal plate size / MGI
- decreased CD4-positive, alpha beta T cell number / MGI
- increased CD8-positive, alpha-beta T cell number / MGI
- lymph node hyperplasia / MGI
- enlarged heart left atrium / MGI
- abnormal hair cycle catagen phase / MGI
- abnormal thymus corticomedullary boundary morphology / MGI
- increased keratinocyte proliferation / MGI
- hypergranulosis / MGI
- orthokeratosis / MGI
- rough coat / MGI
- focal dorsal hair loss / MGI
- abnormal T wave / MGI
- abnormal heart electrocardiography waveform feature / MGI
- atrioventricular block / MGI
- hair follicle outer root sheath hyperplasia / MGI
- integument phenotype / MGI
- postnatal lethality, incomplete penetrance / MGI
- abnormal visceral endoderm morphology / MGI
- dilated lymph node medullary sinus / MGI
- abnormal R wave / MGI
- abnormal heart echocardiography feature / MGI
- dental pulp necrosis / MGI
- enlarged thymus cortex / MGI
- periodontal ligament necrosis / MGI
- dilated piliary canal / MGI
Literature references
- Nackt (nkt), a new hair loss mutation of the mouse with associated CD4 deficiency.;Benavides F, Giordano M, Fiette L, Bueno Brunialti A L, Martin Palenzuela N, Vanzulli S, Baldi P, Schmidt R, Dosne Pasqualini C, Guénet J, ;1999;Immunogenetics;49;413-9; 10199917
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