C57BL/6N-Atm1Brd Pthlhtm1a(KOMP)Wtsi/WtsiOrl

Status

Available to order

EMMA IDEM:07507
International strain nameC57BL/6N-Atm1Brd Pthlhtm1a(KOMP)Wtsi/WtsiOrl
Alternative nameEPD0798_1_C02
Strain typeTargeted Mutant Strains
Allele/Transgene symbolPthlhtm1a(KOMP)Wtsi
Gene/Transgene symbolPthlh
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 KOMP ES clone EPD0798_1_C02. 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
  • Functional analysis of candidate genes from genome-wide association studies of hearing.;Ingham Neil J, Rook Victoria, Di Domenico Francesca, James Elysia, Lewis Morag A, Girotto Giorgia, Buniello Annalisa, Steel Karen P, ;2020;Hearing research;387;107879; 31927188

Information from EMMA

Archiving centreInstitut de Transgenose, INTRAGENE, Orléans, France

Disease and phenotype information

Orphanet associated rare diseases, based on orthologous gene matching

IMPC phenotypes (allele matching)
  • abnormal head morphology / IMPC
  • abnormal cranium morphology / IMPC
  • increased blood urea nitrogen level / IMPC
  • preweaning lethality, complete penetrance / IMPC
IMPC phenotypes (gene matching)
  • abnormal head morphology / IMPC
  • abnormal cranium morphology / IMPC
  • increased blood urea nitrogen level / IMPC
  • preweaning lethality, complete penetrance / IMPC
MGI phenotypes (gene matching)
  • decreased bone mineral density / MGI
  • osteoporosis / MGI
  • short mandible / MGI
  • failure of tooth eruption / MGI
  • abnormal trabecular bone morphology / MGI
  • abnormal long bone metaphysis morphology / MGI
  • abnormal vertebral body morphology / MGI
  • abnormal rib morphology / MGI
  • kyphosis / MGI
  • abnormal cartilage development / MGI
  • abnormal long bone hypertrophic chondrocyte zone / MGI
  • decreased chondrocyte number / MGI
  • decreased cell proliferation / MGI
  • domed cranium / MGI
  • short snout / MGI
  • abnormal mandible morphology / MGI
  • short limbs / MGI
  • enlarged liver sinusoidal spaces / MGI
  • decreased brain size / MGI
  • abnormal forebrain morphology / MGI
  • abnormal lung morphology / MGI
  • abnormal lung development / MGI
  • atelectasis / MGI
  • thin epidermis / MGI
  • hyperkeratosis / MGI
  • decreased body size / MGI
  • abnormal gait / MGI
  • abnormal circulating calcium level / MGI
  • cyanosis / MGI
  • abnormal blood vessel morphology / MGI
  • postnatal growth retardation / MGI
  • respiratory failure / MGI
  • abnormal skeleton development / MGI
  • abnormal axial skeleton morphology / MGI
  • no abnormal phenotype detected / MGI
  • abnormal type II pneumocyte morphology / MGI
  • abnormal lung interstitium morphology / MGI
  • disproportionate dwarf / MGI
  • chondrodystrophy / MGI
  • short tibia / MGI
  • abnormal bone mineralization / MGI
  • abnormal long bone epiphyseal plate morphology / MGI
  • short femur / MGI
  • enlarged parathyroid gland / MGI
  • increased width of hypertrophic chondrocyte zone / MGI
  • premature bone ossification / MGI
  • premature endochondral bone ossification / MGI
  • small lung / MGI
  • abnormal long bone epiphyseal plate proliferative zone / MGI
  • abnormal long bone morphology / MGI
  • premature aging / MGI
  • abnormal bone structure / MGI
  • increased compact bone thickness / MGI
  • abnormal calcium ion homeostasis / MGI
  • short sternum / MGI
  • short humerus / MGI
  • short radius / MGI
  • short ulna / MGI
  • short ribs / MGI
  • splayed ribs / MGI
  • decreased length of long bones / MGI
  • small thoracic cavity / MGI
  • abnormal brain vasculature morphology / MGI
  • abnormal osteoclast morphology / MGI
  • decreased osteoclast cell number / MGI
  • abnormal osteoblast morphology / MGI
  • increased osteoblast cell number / MGI
  • decreased osteoblast cell number / MGI
  • cachexia / MGI
  • abnormal clavicle morphology / MGI
  • growth/size/body region phenotype / MGI
  • skeleton phenotype / MGI
  • decreased circulating glucose level / MGI
  • increased apoptosis / MGI
  • abnormal inferior vena cava morphology / MGI
  • decreased long bone epiphyseal plate size / MGI
  • increased diameter of long bones / MGI
  • abnormal autophagy / MGI
  • abnormal bone ossification / MGI
  • abnormal sternum ossification / MGI
  • abnormal osteoblast differentiation / MGI
  • abnormal cervical rib / MGI
  • protruding tongue / MGI
  • decreased total body fat amount / MGI
  • abnormal thoracic cage shape / MGI
  • absent type I pneumocytes / MGI
  • abnormal lung saccule morphology / MGI
  • small lung saccule / MGI
  • abnormal bone trabecula morphology / MGI
  • decreased alveolar lamellar body number / MGI
  • abnormal pulmonary alveolus epithelium morphology / MGI
  • decreased surfactant secretion / MGI
  • postnatal lethality, complete penetrance / MGI
  • neonatal lethality, complete penetrance / MGI
  • perinatal lethality, complete penetrance / MGI
  • thick lung-associated mesenchyme / MGI
  • abnormal mesenchymal cell differentiation involved in lung development / MGI
  • abnormal ductus venosus valve morphology / MGI
  • embryo tumor / MGI
  • decreased chondrocyte proliferation / MGI
  • increased chondrocyte apoptosis / MGI
  • increased osteoblast apoptosis / MGI
  • increased osteocyte apoptosis / MGI

Literature references

  • Functional analysis of candidate genes from genome-wide association studies of hearing.;Ingham Neil J, Rook Victoria, Di Domenico Francesca, James Elysia, Lewis Morag A, Girotto Giorgia, Buniello Annalisa, Steel Karen P, ;2020;Hearing research;387;107879; 31927188

Information on how we integrate external resources can be found here

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Availabilities

Requesting frozen sperm or embryos is generally advisable wherever possible, in order to minimise the shipment of live mice.

Due to the dynamic nature of our processes strain availability may change at short notice. The local repository manager will advise you in these circumstances.

* In addition users have to cover all the shipping costs (including the cost for returning dry-shippers, where applicable).

More details on pricing and delivery times

Practical information

Genotyping protocol

Example health report
(Current health report will be provided later)

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.

EMMA conditions
Legally binding conditions for the transfer

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