STOCK Hsd17b4^tm1Baes/Ph

Status	Available to order
EMMA ID	EM:12344
International strain name	STOCK Hsd17b4^tm1Baes/Ph
Alternative name	SWR-MFP2 +/-
Strain type	Targeted Mutant Strains : Knock-out
Allele/Transgene symbol	Hsd17b4^tm1Baes
Gene/Transgene symbol	Hsd17b4

Information from provider

Provider	Miriam Baes
Provider affiliation	Department of Pharmaceutical and Pharmacological, Cell Metabolism, Katholieke Universiteit Leuven
Genetic information	Hsd17b4 ((hydroxysteroid (17-beta) dehydrogenase 4) gene amplified from P1 genomic library (donor strain not known). Targeting vector DNA (for recombinant removal of exon 1-3 of the Hsd17b4 gene) was transfected into R1 ES cells ((129X1/SvJ x 129S1/Sv)F1); ES cells were transferred to Swiss background - not otherwise specified, first publications concerning the generated knock-out mice (e.g. in 2006) described the line as [Tac(Sw)fBR]SV129. After import of these mice to HMGU they were once crossed to Swiss animals (probably SWR/OlaHsd); after that, only sibling matings were performed, 35 times.
Phenotypic information	Homozygous: The first 3 exons of the mouse Hsd17b4 gene are removed by homologous recombination. As a result, no functional protein for MFP2 (Hsd17b4 or 17beta-HSD4) can be formed, and important central enzymatic reactions, such as e.g. beta-oxidation of certain fatty acids, can no longer take place. Homozygous MFP2 knock-out (MFP2 -/-) mice are born, but up to 30% of young MFP2 -/- mice can die prematurely after birth. The growth is delayed and the knock-out animals never reach the weight and size of wild-type or heterozygous siblings. Females show impaired fertility. Males develop complete testis atrophy. MFP2-deficient mice accumulate very long chain fatty acids (VLCFA) in the brain, C27 bile acid intermediates in the bile, and phospholipids and branched chain fatty acids in the liver, due to impaired peroxisomal beta-oxidation of these substrates. In the MFP2 knock-out brain, various anomalies can be detected, such as accumulation of neutral fats, overexpression of catalase and severe astro- and microgliosis. Some weeks after birth, the MFP2 knock-out mice show limb cramping when lifted on the tail. Further, the animals develop diminished motor skills, which in turn leads to less mobility. The homozygous animals of the SWR-MFP2 line die at the age of about 12 weeks. Heterozygous: The first 3 exons of the mouse Hsd17b4 gene are removed by homologous recombination. As a result, no functional protein for MFP2 (Hsd17b4 or 17beta-HSD4) can be formed, and important central enzymatic reactions, such as e.g. beta-oxidation of certain fatty acids, can no longer take place. However, heterozygous MFP2 knock-out (MFP2 +/-) mice do not show a phenotype since the Hsd17b14 gene in these animals is switched off on only one allele and the wild-type gene of the other allele takes full function in the mouse.
Breeding history	See genetic description above
References	Inactivation of the peroxisomal multifunctional protein-2 in mice impedes the degradation of not only 2-methyl-branched fatty acids and bile acid intermediates but also of very long chain fatty acids.;Baes M, Huyghe S, Carmeliet P, Declercq P E, Collen D, Mannaerts G P, Van Veldhoven P P, ;2000;The Journal of biological chemistry;275;16329-36; 10748062 Peroxisomal multifunctional protein 2 is essential for lipid homeostasis in Sertoli cells and male fertility in mice.;Huyghe Steven, Schmalbruch Henning, De Gendt Karel, Verhoeven Guido, Guillou Florian, Van Veldhoven Paul P, Baes Myriam, ;2006;Endocrinology;147;2228-36; 16484321
Homozygous fertile	no
Homozygous viable	yes
Homozygous matings required	no
Immunocompromised	no

Information from EMMA

Archiving centre	Institute of Molecular Genetics, Prague, Czech Republic
Breeding at archiving centre	Heterozygous x wild-type mice
Stage of embryos	2-cell

Disease and phenotype information

MGI allele-associated human disease models

D-bifunctional protein deficiency / DOID:0090031

Orphanet associated rare diseases, based on orthologous gene matching

Perrault syndrome / Orphanet_2855
Bifunctional enzyme deficiency / Orphanet_300

IMPC phenotypes (gene matching)

abnormal spleen morphology / IMPC
abnormal sternum morphology / IMPC
small uterus / IMPC
enlarged heart / IMPC
abnormal iris morphology / IMPC
limb grasping / IMPC
enlarged adrenal glands / IMPC
decreased circulating aspartate transaminase level / IMPC
abnormal gait / IMPC
preweaning lethality, incomplete penetrance / IMPC
cataract / IMPC
abnormal auditory brainstem response / IMPC
enlarged urinary bladder / IMPC
aspermia / IMPC
abnormal eye morphology / IMPC
irregularly shaped pupil / IMPC
hypoplasia / IMPC
cataract / IMPC
abnormal tooth morphology / IMPC
follicular atresia / IMPC
increased grip strength / IMPC
abnormal embryo size / IMPC
dysplasia / IMPC
abnormal seminal vesicle morphology / IMPC

Literature references

Inactivation of the peroxisomal multifunctional protein-2 in mice impedes the degradation of not only 2-methyl-branched fatty acids and bile acid intermediates but also of very long chain fatty acids.;Baes M, Huyghe S, Carmeliet P, Declercq P E, Collen D, Mannaerts G P, Van Veldhoven P P, ;2000;The Journal of biological chemistry;275;16329-36; 10748062
Peroxisomal multifunctional protein 2 is essential for lipid homeostasis in Sertoli cells and male fertility in mice.;Huyghe Steven, Schmalbruch Henning, De Gendt Karel, Verhoeven Guido, Guillou Florian, Van Veldhoven Paul P, Baes Myriam, ;2006;Endocrinology;147;2228-36; 16484321

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.

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

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

Other EMMA strains

Not found what you were looking for? Search here for other strains available from EMMA.

STOCK Hsd17b4tm1Baes/Ph