C57BL/6N-Atm1Brd Acer1tm1a(EUCOMM)Wtsi/WtsiH

Status

Available to order

EMMA IDEM:08275
International strain nameC57BL/6N-Atm1Brd Acer1tm1a(EUCOMM)Wtsi/WtsiH
Alternative nameEPD0377_3_B06
Strain typeTargeted Mutant Strains
Allele/Transgene symbolAcer1tm1a(EUCOMM)Wtsi
Gene/Transgene symbolAcer1
DisclaimerPlease note that for EUCOMM and KOMP-CSD mice supplied to the scientific community by INFRAFRONTIER/EMMA:
  1. We can not guarantee a null mutation for Knock-out first alleles (tm1a alleles, see http://www.mousephenotype.org/about-ikmc/targeting-strategies) as the critical exon has not been deleted.
  2. That the structure of the targeted mutation in the ES cells obtained from EUCOMM/KOMP to generate EUCOMM/KOMP mice is not verified by INFRAFRONTIER/EMMA. It is recommended that the recipient confirms the mutation structure.
  3. No check for determining the copy number of the targeting construct in ES cells obtained from EUCOMM/KOMP is done by INFRAFRONTIER/EMMA.
  4. The level of quality control before mice are released is to confirm the individual mouse genotype by short range PCR.

Information from provider

Provider Wellcome Trust Sanger Institute
Provider affiliationWellcome Trust Sanger Institute
Genetic informationThis mouse line originates from EUCOMM ES clone EPD0377_3_B06. For further details on the construction of this clone see the page at the IMPC portal.
Phenotypic informationPotential phenotyping data in the IMPC portal
References
  • Alkaline ceramidase 1 is essential for mammalian skin homeostasis and regulating whole-body energy expenditure.;Liakath-Ali Kifayathullah, Vancollie Valerie E, Lelliott Christopher J, Speak Anneliese O, Lafont David, Protheroe Hayley J, Ingvorsen Camilla, Galli Antonella, Green Angela, Gleeson Diane, Ryder Ed, Glover Leanne, Vizcay-Barrena Gema, Karp Natasha A, Arends Mark J, Brenn Thomas, Spiegel Sarah, Adams David J, Watt Fiona M, van der Weyden Louise, ;2016;The Journal of pathology;239;374-83; 27126290

Information from EMMA

Archiving centreMary Lyon Centre at MRC Harwell, Oxford, United Kingdom

Disease and phenotype information

IMPC phenotypes (allele matching)
  • abnormal retina morphology / IMPC
  • abnormal hair growth / IMPC
IMPC phenotypes (gene matching)
  • abnormal hair growth / IMPC
  • abnormal retina morphology / IMPC
MGI phenotypes (allele matching)
  • abnormal coat/ hair morphology / MGI
  • abnormal hair follicle morphology / MGI
  • abnormal awl hair morphology / MGI
  • abnormal zigzag hair morphology / MGI
  • alopecia / MGI
  • enlarged sebaceous gland / MGI
  • scaly skin / MGI
  • epidermal hyperplasia / MGI
  • abnormal epidermis stratum granulosum morphology / MGI
  • abnormal epidermis stratum corneum morphology / MGI
  • hyperkeratosis / MGI
  • thick dermal layer / MGI
  • decreased body weight / MGI
  • hyperactivity / MGI
  • abnormal lipid level / MGI
  • abnormal hair growth / MGI
  • impaired skin barrier function / MGI
  • abnormal hair follicle development / MGI
  • abnormal hair shaft morphology / MGI
  • abnormal hair cuticle / MGI
  • dry skin / MGI
  • increased energy expenditure / MGI
  • skin inflammation / MGI
  • increased eosinophil cell number / MGI
  • increased apoptosis / MGI
  • increased basal metabolism / MGI
  • decreased brown fat cell lipid droplet size / MGI
  • increased epididymal fat pad weight / MGI
  • decreased epididymal fat pad weight / MGI
  • decreased inguinal fat pad weight / MGI
  • delayed skin barrier formation / MGI
  • abnormal skin sebaceous gland morphology / MGI
  • increased keratinocyte proliferation / MGI
  • abnormal keratohyalin granule morphology / MGI
  • abnormal hair follicle bulge morphology / MGI
  • abnormal sphingomyelin level / MGI
  • abnormal hair follicle infundibulum morphology / MGI
  • dilated hair follicle infundibulum / MGI
  • increased food intake / MGI
  • abnormal ceramide level / MGI
  • abnormal sebocyte morphology / MGI
  • decreased brown adipose tissue mass / MGI
  • decreased sphingosine level / MGI
MGI phenotypes (gene matching)
  • abnormal coat/ hair morphology / MGI
  • abnormal hair follicle morphology / MGI
  • abnormal awl hair morphology / MGI
  • abnormal zigzag hair morphology / MGI
  • alopecia / MGI
  • abnormal hair cycle / MGI
  • enlarged sebaceous gland / MGI
  • scaly skin / MGI
  • epidermal hyperplasia / MGI
  • abnormal epidermis stratum granulosum morphology / MGI
  • abnormal epidermis stratum corneum morphology / MGI
  • hyperkeratosis / MGI
  • thick dermal layer / MGI
  • decreased body weight / MGI
  • weight loss / MGI
  • hyperactivity / MGI
  • abnormal lipid level / MGI
  • abnormal hair growth / MGI
  • impaired skin barrier function / MGI
  • abnormal sebaceous lipid secretion / MGI
  • abnormal hair follicle development / MGI
  • abnormal hair shaft morphology / MGI
  • abnormal hair cuticle / MGI
  • dry skin / MGI
  • abnormal skin development / MGI
  • increased energy expenditure / MGI
  • skin inflammation / MGI
  • increased eosinophil cell number / MGI
  • abnormal skin physiology / MGI
  • abnormal enzyme/coenzyme activity / MGI
  • increased apoptosis / MGI
  • abnormal hair cycle anagen phase / MGI
  • abnormal hair cycle telogen phase / MGI
  • increased basal metabolism / MGI
  • decreased brown fat cell lipid droplet size / MGI
  • increased epididymal fat pad weight / MGI
  • decreased epididymal fat pad weight / MGI
  • decreased inguinal fat pad weight / MGI
  • delayed skin barrier formation / MGI
  • abnormal skin sebaceous gland morphology / MGI
  • increased keratinocyte proliferation / MGI
  • abnormal keratohyalin granule morphology / MGI
  • abnormal hair follicle bulge morphology / MGI
  • sebaceous gland hypertrophy / MGI
  • abnormal sphingomyelin level / MGI
  • abnormal hair follicle infundibulum morphology / MGI
  • dilated hair follicle infundibulum / MGI
  • mortality/aging / MGI
  • abnormal hair follicle physiology / MGI
  • increased food intake / MGI
  • abnormal ceramide level / MGI
  • abnormal sebocyte morphology / MGI
  • decreased brown adipose tissue mass / MGI
  • decreased sphingosine level / MGI
  • abnormal piliary canal morphology / MGI

Literature references

  • Alkaline ceramidase 1 is essential for mammalian skin homeostasis and regulating whole-body energy expenditure.;Liakath-Ali Kifayathullah, Vancollie Valerie E, Lelliott Christopher J, Speak Anneliese O, Lafont David, Protheroe Hayley J, Ingvorsen Camilla, Galli Antonella, Green Angela, Gleeson Diane, Ryder Ed, Glover Leanne, Vizcay-Barrena Gema, Karp Natasha A, Arends Mark J, Brenn Thomas, Spiegel Sarah, Adams David J, Watt Fiona M, van der Weyden Louise, ;2016;The Journal of pathology;239;374-83; 27126290

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