C57BL/6N-A^tm1Brd Ift80^{tm1a(KOMP)Wtsi}/WtsiPh

Status	Available to order
EMMA ID	EM:14062
International strain name	C57BL/6N-A^tm1Brd Ift80^{tm1a(KOMP)Wtsi}/WtsiPh
Alternative name	EPD0356_2_E12
Strain type	Targeted Mutant Strains
Allele/Transgene symbol	Ift80^{tm1a(KOMP)Wtsi}
Gene/Transgene symbol	Ift80
Disclaimer	Please note that for EUCOMM and KOMP-CSD mice supplied to the scientific community by INFRAFRONTIER/EMMA: 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. 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. No check for determining the copy number of the targeting construct in ES cells obtained from EUCOMM/KOMP is done by INFRAFRONTIER/EMMA. 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 affiliation	Wellcome Trust Sanger Institute
Genetic information	This mouse line originates from KOMP ES clone EPD0356_2_E12. For further details on the construction of this clone see the page at the IMPC portal.
Phenotypic information	Potential phenotyping data in the IMPC portal
References	None available

Information from EMMA

Archiving centre	Institute of Molecular Genetics, Prague, Czech Republic
Animals used for archiving	heterozygous C57BL/6NTac

Disease and phenotype information

Orphanet associated rare diseases, based on orthologous gene matching

Short rib-polydactyly syndrome, Verma-Naumoff type / Orphanet_93271
Jeune syndrome / Orphanet_474
Short rib-polydactyly syndrome, Beemer-Langer type / Orphanet_93268

IMPC phenotypes (allele matching)

abnormal radius morphology / IMPC
abnormal pelvic girdle bone morphology / IMPC
abnormal ulna morphology / IMPC
increased blood urea nitrogen level / IMPC
increased red blood cell distribution width / IMPC
preweaning lethality, incomplete penetrance / IMPC

IMPC phenotypes (gene matching)

increased blood urea nitrogen level / IMPC
abnormal ulna morphology / IMPC
abnormal radius morphology / IMPC
increased red blood cell distribution width / IMPC
abnormal pelvic girdle bone morphology / IMPC
preweaning lethality, incomplete penetrance / IMPC

MGI phenotypes (gene matching)

abnormal rib morphology / MGI
abnormal long bone hypertrophic chondrocyte zone / MGI
abnormal cranium morphology / MGI
postnatal growth retardation / MGI
decreased width of hypertrophic chondrocyte zone / MGI
decreased length of long bones / MGI
small cranium / MGI
renal/urinary system phenotype / MGI
growth/size/body region phenotype / MGI
vision/eye phenotype / MGI
disorganized long bone epiphyseal plate / MGI
decreased birth body size / MGI
preaxial polydactyly / MGI
abnormal thoracic cage shape / MGI
lethality, incomplete penetrance / MGI
perinatal lethality, incomplete penetrance / MGI

Information on how we integrate external resources can be found here

Availabilities

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

Frozen sperm. Delivered in 4 weeks (after paperwork in place). €1740^*
Rederivation of mice from frozen stock, delivery time available upon request . €3880^*

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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