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

IMPC phenotypes (gene matching)

preweaning lethality, complete penetrance / IMPC
increased total body fat amount / IMPC
narrow eye opening / IMPC
increased circulating cholesterol level / IMPC
abnormal cornea morphology / IMPC
impaired pupillary reflex / IMPC
decreased grip strength / IMPC
increased circulating HDL cholesterol level / IMPC
decreased lean body mass / IMPC
decreased leukocyte cell number / IMPC
corneal opacity / IMPC
abnormal behavior / IMPC
decreased locomotor activity / IMPC
decreased thigmotaxis / IMPC

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

MGI phenotypes (gene matching)

abnormal adipose tissue morphology / MGI
small ears / MGI
abnormal inner ear morphology / MGI
abnormal cochlea morphology / MGI
abnormal inner ear vestibule morphology / MGI
abnormal scapula morphology / MGI
abnormal hair follicle morphology / MGI
decreased hair follicle number / MGI
abnormal pulmonary trunk morphology / MGI
abnormal intestinal epithelium morphology / MGI
abnormal colon morphology / MGI
abnormal urethra morphology / MGI
absent limbs / MGI
absent forelimb / MGI
absent radius / MGI
absent hindlimb / MGI
absent salivary gland / MGI
dextrocardia / MGI
abnormal branching of the mammary ductal tree / MGI
small thymus / MGI
abnormal tongue morphology / MGI
abnormal sensory neuron innervation pattern / MGI
abnormal male reproductive system morphology / MGI
abnormal prostate gland morphology / MGI
absent prostate gland / MGI
abnormal lung development / MGI
absent lungs / MGI
thin skin / MGI
translucent skin / MGI
abnormal epidermal layer morphology / MGI
thin epidermis / MGI
decreased body weight / MGI
microphthalmia / MGI
eyelids open at birth / MGI
abnormal lens morphology / MGI
abnormal embryo development / MGI
abnormal embryonic tissue morphology / MGI
abnormal tooth morphology / MGI
abnormal ear morphology / MGI
abnormal respiratory system morphology / MGI
no abnormal phenotype detected / MGI
abnormal pulmonary circulation / MGI
abnormal forced expiratory flow rates / MGI
small stomach / MGI
abnormal inner ear canal morphology / MGI
absent bulbourethral gland / MGI
abnormal lens fiber morphology / MGI
small kidney / MGI
abnormal kidney medulla morphology / MGI
hypospadia / MGI
decreased lateral semicircular canal size / MGI
absent posterior semicircular canal / MGI
absent superior semicircular canal / MGI
abnormal pulmonary elastic fiber morphology / MGI
abnormal lens epithelium morphology / MGI
pancreas fibrosis / MGI
decreased pancreatic beta cell number / MGI
abnormal hypaxial muscle morphology / MGI
epididymal cyst / MGI
small lung / MGI
absent seminal vesicle / MGI
abnormal palate morphology / MGI
decreased palatal length / MGI
abnormal hair shaft morphology / MGI
abnormal Wolffian duct morphology / MGI
diaphragmatic hernia / MGI
abnormal gastric chief cell morphology / MGI
decreased fetal size / MGI
small pancreas / MGI
abnormal crista ampullaris morphology / MGI
small vestibular saccule / MGI
absent humerus / MGI
absent ulna / MGI
abnormal pelvic girdle bone morphology / MGI
abnormal vestibular hair cell stereociliary bundle morphology / MGI
absent limb buds / MGI
short incisors / MGI
abnormal large intestine crypts of Lieberkuhn morphology / MGI
narrow eye opening / MGI
absent thyroid gland / MGI
absent pituitary gland / MGI
abnormal incisor morphology / MGI
muscle phenotype / MGI
vision/eye phenotype / MGI
abnormal enzyme/coenzyme activity / MGI
abnormal limb bud morphology / MGI
impaired lung alveolus development / MGI
abnormal heart position or orientation / MGI
abnormal retinal apoptosis / MGI
abnormal utricle morphology / MGI
abnormal limb development / MGI
small otic capsule / MGI
small molars / MGI
absent adenohypophysis / MGI
abnormal hindgut morphology / MGI
abnormal mammary fat pad morphology / MGI
abnormal cecum development / MGI
absent rectum / MGI
cecal atresia / MGI
submandibular gland hypoplasia / MGI
absent submandibular gland / MGI
abnormal submandibular duct morphology / MGI
abnormal secondary palate development / MGI
palatal shelf fusion with tongue or mandible / MGI
cleft secondary palate / MGI
abnormal primitive urogenital sinus morphology / MGI
abnormal heart atrium auricular region morphology / MGI
absent pulmonary artery / MGI
absent pulmonary vein / MGI
abnormal hair follicle bulb morphology / MGI
abnormal stomach submucosa morphology / MGI
absent lung buds / MGI
abnormal branching involved in trachea morphogenesis / MGI
impaired branching involved in bronchus morphogenesis / MGI
impaired branching involved in preterminal bronchiole morphogenesis / MGI
abnormal vestibular hair cell kinocilium morphology / MGI
neonatal lethality, complete penetrance / MGI
perinatal lethality, complete penetrance / MGI
prenatal lethality, complete penetrance / MGI
increased hair follicle apoptosis / MGI
dilated kidney calyx / MGI
abnormal kidney outer medulla morphology / MGI
abnormal kidney inner medulla morphology / MGI
abnormal metanephric ureteric bud development / MGI
absent Rathke's pouch / MGI
absent colon / MGI
tongue ankylosis / MGI
abnormal neurohypophysis development / MGI
abnormal Rathke's pouch apoptosis / MGI
Harderian gland atrophy / MGI
decreased trachea gland number / MGI
abnormal periderm development / MGI
abnormal nasal gland morphology / MGI
abnormal lateral nasal gland morphology / MGI
abnormal mammary placode morphology / MGI
absent palatal rugae / MGI
decreased colon length / 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