C57BL/6N-A^tm1Brd Aspm^{tm1a(KOMP)Wtsi}/WtsiFlmg

Status	Available to order
EMMA ID	EM:13192
International strain name	C57BL/6N-A^tm1Brd Aspm^{tm1a(KOMP)Wtsi}/WtsiFlmg
Alternative name	EPD0320_1_A06
Strain type	Targeted Mutant Strains
Allele/Transgene symbol	Aspm^{tm1a(KOMP)Wtsi}
Gene/Transgene symbol	Aspm
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 EPD0320_1_A06. 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	B.S.R.C. Alexander Fleming, Vari, Greece

Disease and phenotype information

Orphanet associated rare diseases, based on orthologous gene matching

Autosomal recessive primary microcephaly / Orphanet_2512

IMPC phenotypes (allele matching)

increased circulating HDL cholesterol level / IMPC
thrombocytopenia / IMPC
increased circulating glycerol level / IMPC
decreased lean body mass / IMPC
increased circulating cholesterol level / IMPC
increased total body fat amount / IMPC

IMPC phenotypes (gene matching)

increased total body fat amount / IMPC
increased circulating glycerol level / IMPC
increased circulating cholesterol level / IMPC
decreased lean body mass / IMPC
increased circulating HDL cholesterol level / IMPC
thrombocytopenia / IMPC

MGI phenotypes (gene matching)

microcephaly / MGI
decreased brain size / MGI
abnormal brain development / MGI
small testis / MGI
Leydig cell hyperplasia / MGI
seminiferous tubule degeneration / MGI
decreased body weight / MGI
reduced male fertility / MGI
reduced female fertility / MGI
decreased brain weight / MGI
abnormal astrocyte morphology / MGI
asthenozoospermia / MGI
oligozoospermia / MGI
abnormal Sertoli cell morphology / MGI
no phenotypic analysis / MGI
abnormal cell cycle / MGI
abnormal barrel cortex morphology / MGI
decreased testis weight / MGI
decreased ovary weight / MGI
decreased neuronal precursor cell number / MGI
thin cerebral cortex / MGI
enlarged lateral ventricles / MGI
abnormal cerebral hemisphere morphology / MGI
abnormal neocortex morphology / MGI
small sperm head / 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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