C3HeB/FeJ-Fgf10^Mhdaaey17/Ieg

Status	Available to order
EMMA ID	EM:00010
International strain name	C3HeB/FeJ-Fgf10^Mhdaaey17/Ieg
Alternative name	AEY17
Strain type	Induced Mutant Strains : Chemically-induced
Allele/Transgene symbol	Fgf10^Mhdaaey17,
Gene/Transgene symbol	Fgf10

Information from provider

Provider	Martin Hrabe de Angelis
Provider affiliation	Institute of Experimental Genetics, Helmholtz Zentrum Muenchen - German Research Center for Environmental Health (GmbH)
Genetic information	Gene: Fgf10. ENU induces an A to G transition that destroys the splice signal. This mutation results in the inclusion of 49 bp from the 3' end of intron 1 and protein truncation after 54 new amino acids. Disclaimer - Special restrictions: 1) Mutant development was phenotype driven. Although for some mutant lines, linkage data and the molecular characterization of the causative mutation has been published, EMMA has not genotyped the strains and can not provide genotyping protocols. 2) Some lines showed low penetrance of the phenotype. 3) Only sperm available. Rederivation service can not be offered. 4) EMMA quality control standards may not apply for these strains. 5) EMMA has not verified the breeding performance and the genetic background of the strains. The genotype/phenotype of the mice is not confirmed by INFRAFRONTIER/EMMA. We strongly recommend that the recipient confirms genotype/phenotype upon receipt.
Phenotypic information	Small eyes.
Breeding history	Around five times backcrossed to C3HeB/FeJ.
References	Genome-wide, large-scale production of mutant mice by ENU mutagenesis.;Hrabé de Angelis M H, Flaswinkel H, Fuchs H, Rathkolb B, Soewarto D, Marschall S, Heffner S, Pargent W, Wuensch K, Jung M, Reis A, Richter T, Alessandrini F, Jakob T, Fuchs E, Kolb H, Kremmer E, Schaeble K, Rollinski B, Roscher A, Peters C, Meitinger T, Strom T, Steckler T, Holsboer F, Klopstock T, Gekeler F, Schindewolf C, Jung T, Avraham K, Behrendt H, Ring J, Zimmer A, Schughart K, Pfeffer K, Wolf E, Balling R, ;2000;Nature genetics;25;444-7; 10932192 A new Fgf10 mutation in the mouse leads to atrophy of the harderian gland and slit-eye phenotype in heterozygotes: a novel model for dry-eye disease?;Puk Oliver, Esposito Irene, Söker Torben, Löster Jana, Budde Birgit, Nürnberg Peter, Michel-Soewarto Dian, Fuchs Helmut, Wolf Eckhard, Hrabé de Angelis Martin, Graw Jochen, ;2009;Investigative ophthalmology & visual science;50;4311-8; 19407009 Screening for dysmorphological abnormalities--a powerful tool to isolate new mouse mutants.;Fuchs H, Schughart K, Wolf E, Balling R, Hrabé de Angelis M, ;2000;Mammalian genome : official journal of the International Mammalian Genome Society;11;528-30; 10886017

Information from EMMA

Archiving centre	Helmholtz Zentrum Muenchen - German Research Center for Environmental Health (GmbH), Oberschleißheim, Germany

Disease and phenotype information

Orphanet associated rare diseases, based on orthologous gene matching

Aplasia of lacrimal and salivary glands / Orphanet_86815
Lacrimoauriculodentodigital syndrome / Orphanet_2363

MGI phenotypes (allele matching)

microphthalmia / MGI
abnormal lens morphology / MGI
abnormal lens fiber morphology / MGI
abnormal lens epithelium morphology / MGI
narrow eye opening / MGI
vision/eye phenotype / MGI
Harderian gland atrophy / MGI
abnormal retinal apoptosis / MGI
absent limbs / MGI
prenatal lethality, complete penetrance / MGI

Literature references

Genome-wide, large-scale production of mutant mice by ENU mutagenesis.;Hrabé de Angelis M H, Flaswinkel H, Fuchs H, Rathkolb B, Soewarto D, Marschall S, Heffner S, Pargent W, Wuensch K, Jung M, Reis A, Richter T, Alessandrini F, Jakob T, Fuchs E, Kolb H, Kremmer E, Schaeble K, Rollinski B, Roscher A, Peters C, Meitinger T, Strom T, Steckler T, Holsboer F, Klopstock T, Gekeler F, Schindewolf C, Jung T, Avraham K, Behrendt H, Ring J, Zimmer A, Schughart K, Pfeffer K, Wolf E, Balling R, ;2000;Nature genetics;25;444-7; 10932192
A new Fgf10 mutation in the mouse leads to atrophy of the harderian gland and slit-eye phenotype in heterozygotes: a novel model for dry-eye disease?;Puk Oliver, Esposito Irene, Söker Torben, Löster Jana, Budde Birgit, Nürnberg Peter, Michel-Soewarto Dian, Fuchs Helmut, Wolf Eckhard, Hrabé de Angelis Martin, Graw Jochen, ;2009;Investigative ophthalmology & visual science;50;4311-8; 19407009
Screening for dysmorphological abnormalities--a powerful tool to isolate new mouse mutants.;Fuchs H, Schughart K, Wolf E, Balling R, Hrabé de Angelis M, ;2000;Mammalian genome : official journal of the International Mammalian Genome Society;11;528-30; 10886017

Information on how we integrate external resources can be found here

Order

Availabilities

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

Frozen embryos. 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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C3HeB/FeJ-Fgf10Mhdaaey17/Ieg