B6.129-Hsd17b4^tm1Baes/Orl

Status	Available to order
EMMA ID	EM:13783
Citation information	RRID:IMSR_EM:13783 Research Resource Identifiers (RRID) are persistent unique ID numbers assigned to help researchers cite key resources (e.g. antibodies, model organisms and software projects) in the biomedical literature to improve transparency and reproducibility in research. See https://www.rrids.org/ for more information.
International strain name	B6.129-Hsd17b4^tm1Baes/Orl
Alternative name	HSD17B4
Strain type	Targeted Mutant Strains : Knock-out
Allele/Transgene symbol	Hsd17b4^tm1Baes
Gene/Transgene symbol	Hsd17b4

Information from provider

Provider	Myriam Baes
Provider affiliation	Pharmaceutical and pharmacological sciences, KU Leuven
Genetic information	Hsd17b4 ((hydroxysteroid (17-beta) dehydrogenase 4) gene was 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).
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, an important central enzymatic reaction such as e.g. beta-oxidation of certain fatty acids, can no longer take place. Homozygous MFP2 knockout (MFP2 -/-) mice are born, but up to 30% of young MFP2 -/- mice can die prematurely after birth. The growth is delayed and the knockout 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 knockout 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 knockout 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 C57BL/6J line die between the age of 4 and 6 months. Heterozygous: Heterozygous MFP2 knock-out (MFP2 +/-) mice do not show a phenotype since the Hsd17b14 gene in these animals is switched off in only one allele and the wild-type gene of the other allele takes full function in the mouse.
Breeding history	Heterozygous Hsd17b4 mice were bred for at least 8 generations into C57BL/6J
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 Specific suppression of microgliosis cannot circumvent the severe neuropathology in peroxisomal β-oxidation-deficient mice.;Beckers L, Stroobants S, Verheijden S, West B, D'Hooge R, Baes M, ;2017;Molecular and cellular neurosciences;80;123-133; 28286294 Peroxisomal multifunctional protein-2 deficiency causes motor deficits and glial lesions in the adult central nervous system.;Huyghe Steven, Schmalbruch Henning, Hulshagen Leen, Veldhoven Paul Van, Baes Myriam, Hartmann Dieter, ;2006;The American journal of pathology;168;1321-34; 16565505 Early-onset Purkinje cell dysfunction underlies cerebellar ataxia in peroxisomal multifunctional protein-2 deficiency.;De Munter Stephanie, Verheijden Simon, Vanderstuyft Esther, Malheiro Ana Rita, Brites Pedro, Gall David, Schiffmann Serge N, Baes Myriam, ;2016;Neurobiology of disease;94;157-68; 27353294 Lipid homeostasis and inflammatory activation are disturbed in classically activated macrophages with peroxisomal β-oxidation deficiency.;Geric Ivana, Tyurina Yulia Y, Krysko Olga, Krysko Dmitri V, De Schryver Evelyn, Kagan Valerian E, Van Veldhoven Paul P, Baes Myriam, Verheijden Simon, ;2018;Immunology;153;342-356; 28940384 Identification of a chronic non-neurodegenerative microglia activation state in a mouse model of peroxisomal β-oxidation deficiency.;Verheijden Simon, Beckers Lien, Casazza Andrea, Butovsky Oleg, Mazzone Massimiliano, Baes Myriam, ;2015;Glia;63;1606-20; 25846981
Homozygous fertile	no
Homozygous viable	yes
Homozygous matings required	no
Immunocompromised	no

Information from EMMA

Archiving centre	CNRS-TAAM – Typing and Archiving of Animal Models, Orléans, France
Animals used for archiving	heterozygous C57BL/6J males

Disease and phenotype information

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
Specific suppression of microgliosis cannot circumvent the severe neuropathology in peroxisomal β-oxidation-deficient mice.;Beckers L, Stroobants S, Verheijden S, West B, D'Hooge R, Baes M, ;2017;Molecular and cellular neurosciences;80;123-133; 28286294
Peroxisomal multifunctional protein-2 deficiency causes motor deficits and glial lesions in the adult central nervous system.;Huyghe Steven, Schmalbruch Henning, Hulshagen Leen, Veldhoven Paul Van, Baes Myriam, Hartmann Dieter, ;2006;The American journal of pathology;168;1321-34; 16565505
Early-onset Purkinje cell dysfunction underlies cerebellar ataxia in peroxisomal multifunctional protein-2 deficiency.;De Munter Stephanie, Verheijden Simon, Vanderstuyft Esther, Malheiro Ana Rita, Brites Pedro, Gall David, Schiffmann Serge N, Baes Myriam, ;2016;Neurobiology of disease;94;157-68; 27353294
Lipid homeostasis and inflammatory activation are disturbed in classically activated macrophages with peroxisomal β-oxidation deficiency.;Geric Ivana, Tyurina Yulia Y, Krysko Olga, Krysko Dmitri V, De Schryver Evelyn, Kagan Valerian E, Van Veldhoven Paul P, Baes Myriam, Verheijden Simon, ;2018;Immunology;153;342-356; 28940384
Identification of a chronic non-neurodegenerative microglia activation state in a mouse model of peroxisomal β-oxidation deficiency.;Verheijden Simon, Beckers Lien, Casazza Andrea, Butovsky Oleg, Mazzone Massimiliano, Baes Myriam, ;2015;Glia;63;1606-20; 25846981

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

Frozen sperm. Delivered in 4 weeks (after paperwork in place). €1740^*
Rederivation of mice from frozen stock, delivery time available upon request . €3880^*

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B6.129-Hsd17b4tm1Baes/Orl