C57BL/6N-Lama1^{tm2b(EUCOMM)Hmgu}/Ieg

Status	Available to order
EMMA ID	EM:09240
International strain name	C57BL/6N-Lama1^{tm2b(EUCOMM)Hmgu}/Ieg
Alternative name	HEPD0596_1_A03
Strain type	Targeted Mutant Strains
Allele/Transgene symbol	Lama1^{tm2b(EUCOMM)Hmgu}
Gene/Transgene symbol	Lama1
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	Helmholtz Zentrum Muenchen - German Research Center for Environmental Health (GmbH)
Provider affiliation	Institute of Experimental Genetics, Helmholtz Zentrum Muenchen - German Research Center for Environmental Health (GmbH)
Genetic information	This mouse line originates from EUCOMM ES clone HEPD0596_1_A03. For further details on the construction of this clone see the page at the IMPC portal. The critical exon(s) were flanked by loxP sites, and subsequent cre expression excised this critical sequence resulting in a knockout reporter allele (Gt(ROSA)26Sortm1(ACTB-cre,-EGFP)Ics (MGI:5285392)). Click here for more information on EUCOMM final vectors.
Phenotypic information	Potential phenotyping data in the IMPC portal
References	None available

Archiving centre	Helmholtz Zentrum Muenchen - German Research Center for Environmental Health (GmbH), Oberschleißheim, Germany
Animals used for archiving	heterozygous C57BL/6NTac

Orphanet associated rare diseases, based on orthologous gene matching

Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome / Orphanet_370022

IMPC phenotypes (allele matching)

IMPC phenotypes (gene matching)

MGI phenotypes (gene matching)

persistence of hyaloid vascular system / MGI
abnormal retina morphology / MGI
abnormal gastrulation / MGI
decreased embryo size / MGI
no abnormal phenotype detected / MGI
absent blastocoele / MGI
abnormal vitreous body morphology / MGI
abnormal retinal vasculature morphology / MGI
abnormal ocular fundus morphology / MGI
vitreal fibroplasia / MGI
abnormal Reichert's membrane morphology / MGI
embryonic growth retardation / MGI
abnormal ectoplacental cone morphology / MGI
abnormal Muller cell morphology / MGI
abnormal eye electrophysiology / MGI
thin retinal ganglion layer / MGI
thin retinal inner nuclear layer / MGI
abnormal retinal blood vessel morphology / MGI
abnormal retinal blood vessel pattern / MGI
abnormal retina inner limiting membrane morphology / MGI
embryonic lethality between implantation and somite formation, complete penetrance / MGI
absent Reichert's membrane / MGI
abnormal visceral endoderm morphology / MGI
abnormal parietal endoderm morphology / MGI
retinal spots / MGI
increased embryonic tissue cell apoptosis / MGI

Information from provider