C57BL/6N-Atm1Brd Cyp11a1tm1a(EUCOMM)Hmgu/WtsiPh

Status

Available to order

EMMA IDEM:09883
Citation informationRRID:IMSR_EM:09883 

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International strain nameC57BL/6N-Atm1Brd Cyp11a1tm1a(EUCOMM)Hmgu/WtsiPh
Alternative nameHEPD0948_5_A10
Strain typeTargeted Mutant Strains
Allele/Transgene symbolCyp11a1tm1a(EUCOMM)Hmgu
Gene/Transgene symbolCyp11a1
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 HEPD0948_5_A10. For further details on the construction of this clone see the page at the IMPC portal.
Phenotypic informationPotential phenotyping data in the IMPC portal
ReferencesNone available

Information from EMMA

Archiving centreInstitute of Molecular Genetics, Prague, Czech Republic

Disease and phenotype information

Orphanet associated rare diseases, based on orthologous gene matching

    • 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency / Orphanet_168558
    • Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency / Orphanet_289548
IMPC phenotypes (gene matching)
  • preweaning lethality, complete penetrance / IMPC
MGI phenotypes (gene matching)
  • enlarged liver sinusoidal spaces / MGI
  • abnormal adrenal gland morphology / MGI
  • enlarged adrenal glands / MGI
  • enlarged adrenocortical cells / MGI
  • abnormal testis morphology / MGI
  • small testis / MGI
  • abnormal spermatogenesis / MGI
  • absent prostate gland / MGI
  • hypoactivity / MGI
  • abnormal lipid level / MGI
  • postnatal growth retardation / MGI
  • increased circulating adrenocorticotropin level / MGI
  • abnormal circulating sodium level / MGI
  • secondary sex reversal / MGI
  • no abnormal phenotype detected / MGI
  • abnormal seminiferous tubule morphology / MGI
  • muscular atrophy / MGI
  • abnormal epididymis morphology / MGI
  • decreased circulating corticosterone level / MGI
  • decreased circulating aldosterone level / MGI
  • abnormal circulating potassium level / MGI
  • absent scrotum / MGI
  • small adrenal glands / MGI
  • abnormal vas deferens morphology / MGI
  • absent bulbourethral gland / MGI
  • absent prostate gland anterior lobe / MGI
  • abnormal adrenal gland physiology / MGI
  • dilated bile duct / MGI
  • abnormal corticosterone level / MGI
  • abnormal optic cup morphology / MGI
  • abnormal epididymis epithelium morphology / MGI
  • hemopericardium / MGI
  • reproductive system phenotype / MGI
  • abnormal circulating hormone level / MGI
  • abnormal food intake / MGI
  • abnormal mitochondrion morphology / MGI
  • decreased T cell apoptosis / MGI
  • abnormal adrenal cortex morphology / MGI
  • abnormal adrenocortical cell morphology / MGI
  • abnormal adrenal gland zona glomerulosa morphology / MGI
  • abnormal adrenal gland zona fasciculata morphology / MGI
  • absent adrenal chromaffin cells / MGI
  • decreased survivor rate / MGI
  • neonatal lethality, complete penetrance / MGI
  • neonatal lethality, incomplete penetrance / MGI
  • decreased noradrenaline level / MGI
  • thin hypoglossal nerve / MGI
  • absent segment of posterior cerebral artery / MGI
  • retrolental blood / MGI
  • decreased adrenaline level / MGI

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Practical information

Genotyping protocol

Example health report
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Material Transfer Agreement (MTA)
Distribution of this strain is subject to a provider MTA. Both signing of the MTA and submission of the online EMMA Mutant Request Form are required before material can be shipped.

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