C57BL/6NTac-Btk^{tm1a(EUCOMM)Hmgu}/IcsOrl

Status	Available to order
EMMA ID	EM:07682
International strain name	C57BL/6NTac-Btk^{tm1a(EUCOMM)Hmgu}/IcsOrl
Alternative name	HEPD0522_1_A11
Strain type	Targeted Mutant Strains
Allele/Transgene symbol	Btk^{tm1a(EUCOMM)Hmgu}
Gene/Transgene symbol	Btk
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.

Provider	ICS, Institut Clinique de la Souris
Provider affiliation	ICS, Institut Clinique de la Souris
Genetic information	This mouse line originates from EUCOMM ES clone HEPD0522_1_A11. 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

Archiving centre	Institut de Transgenose, INTRAGENE, Orléans, France
Animals used for archiving	heterozygous C57BL/6NTac
Breeding at archiving centre	The mutation is on chromosome X

Orphanet associated rare diseases, based on orthologous gene matching

Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia / Orphanet_632
X-linked agammaglobulinemia / Orphanet_47

IMPC phenotypes (allele matching)

IMPC phenotypes (gene matching)

MGI phenotypes (gene matching)

abnormal bone marrow cell number / MGI
decreased neutrophil cell number / MGI
spleen hypoplasia / MGI
impaired myelopoiesis / MGI
decreased IgM level / MGI
autoimmune response / MGI
abnormal B cell differentiation / MGI
abnormal lymphopoiesis / MGI
abnormal pre-B cell morphology / MGI
abnormal macrophage physiology / MGI
abnormal B cell physiology / MGI
abnormal neutrophil physiology / MGI
impaired neutrophil phagocytosis / MGI
decreased IgD level / MGI
increased IgG level / MGI
increased IgM level / MGI
increased IgE level / MGI
decreased susceptibility to experimental autoimmune encephalomyelitis / MGI
decreased B cell number / MGI
decreased acute inflammation / MGI
decreased B cell proliferation / MGI
abnormal B cell proliferation / MGI
immune system phenotype / MGI
decreased follicular B cell number / MGI
increased pro-B cell number / MGI
decreased transitional stage B cell number / MGI
absent B-1a cells / MGI
decreased mature B cell number / MGI
increased immature B cell number / MGI
abnormal B cell activation / MGI
abnormal leukocyte morphology / MGI
decreased spleen germinal center number / MGI
decreased spleen germinal center size / MGI
decreased IgG3 level / MGI
abnormal lymph node germinal center morphology / MGI
increased susceptibility to induced colitis / MGI
decreased splenocyte number / MGI
increased susceptibility to bacterial infection induced morbidity/mortality / MGI

Information from provider