- abnormal coat/ hair morphology / IMPC
- preweaning lethality, complete penetrance / IMPC
- spina bifida / IMPC
- polydactyly / IMPC
- syndactyly / IMPC
- decreased lymphocyte cell number / IMPC
- decreased circulating cholesterol level / IMPC
- microcephaly / IMPC
- increased neutrophil cell number / IMPC
- anophthalmia / IMPC
- microphthalmia / IMPC
- decreased circulating HDL cholesterol level / IMPC
- abnormal vibrissa morphology / IMPC
- hemorrhage / IMPC
- decreased circulating amylase level / IMPC
- absent vibrissae / IMPC
- decreased circulating alkaline phosphatase level / IMPC
STOCK Hrhr Alox12btm1Krie Krt14tm1.1(cre/ERT2)Hjg/KrieH
Status | Under development - register interest |
EMMA ID | EM:12462 |
Citation information | RRID:IMSR_EM:12462 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 | STOCK Hrhr Alox12btm1Krie Krt14tm1.1(cre/ERT2)Hjg/KrieH |
Alternative name | SKH1/Alox12bflox/K14CreJ |
Strain type | Targeted Mutant Strains : Conditional mutation |
Allele/Transgene symbol | Alox12btm1Krie, Krt14tm1.1(cre/ERT2)Hjg, Hrhr |
Gene/Transgene symbol | Alox12b, Krt14, Hr |
Information from provider
Provider | Peter Krieg |
Provider affiliation | Deutsches Krebsforschungszentrum |
Additional owner | Prof. Pierre Chambon, IGBMC, Illkirch, France |
Genetic information | 1. Generation of mice harboring loxP containing Alox12b alleles (Epp et al., 2003): by using a 7.4-kb BamHI fragment from a 129/Ola mouse genomic PAC library and a 4.4-kb PCR-generated fragment containing exon 7–12, a homology region was cloned into pBluescript KS+ that spanned from 226 nt upstream of exon 3 to 1081 nt downstream of exon 11. A tk/neo selection cassette flanked by two loxP sites was inserted 230 bp upstream of exon 8, replacing a 222-bp AccI fragment; a third loxP site was inserted 84 bp downstream of exon 8, deleting a BamHI site. The linearized targeting vector was electroporated into ES cells. ES cells were injected into C57BL/6 blastocysts to generate chimeric mice, which were mated with C57BL/6 females. F1 heterozygotes (Alox12b+/flox) were then crossed to 129S6. 2. Generation of conditional Alox12b knockout mice: mice harboring loxP containing Alox12b alleles were crossed with CMV-cre deleter mice to remove Tk/neo resistance cassette and to obtain Alox12b+/fl mice in which exon 8 of Alox12b is flanked by two loxP sites. Alox12bfl/fl mice were crossed to mice expressing cre recombinase fused to the human estrogen receptor under the control of a truncated keratin 14 promoter (Amen et al., 2013) to obtain mice with Tamoxifen-inducible, epidermis-specific deletion of Alox12b (Alox12bfl/fl K14CreJ mice). The Alox12bfl/fl K14CreJ mice were backcrossed to the hairless SKH1 background for at least five generations. |
Phenotypic information | Homozygous:Complete ablation of Alox12b in epidermis and other keratin 14-expressing tissues.Heterozygous:Ablation of one copy of Alox12b allele in epidermis and other keratin 14-expressing tissues. |
Breeding history | This line was originally 129S6 but later it was back-crossed for about five generations to SKH1 (Hrhr). |
References |
|
Homozygous fertile | yes |
Homozygous viable | yes |
Homozygous matings required | no |
Immunocompromised | no |
Information from EMMA
Archiving centre | Mary Lyon Centre at MRC Harwell, Oxford, United Kingdom |
Disease and phenotype information
Orphanet associated rare diseases, based on orthologous gene matching
- Congenital non-bullous ichthyosiform erythroderma / Orphanet_79394
- Self-improving collodion baby / Orphanet_281122
- Lamellar ichthyosis / Orphanet_313
- Naegeli-Franceschetti-Jadassohn syndrome / Orphanet_69087
- Epidermolysis bullosa simplex, generalized intermediate / Orphanet_79399
- Epidermolysis bullosa simplex, autosomal recessive K14 / Orphanet_89838
- Epidermolysis bullosa simplex, generalized severe / Orphanet_79396
- Epidermolysis bullosa simplex with mottled pigmentation / Orphanet_79397
- Dermatopathia pigmentosa reticularis / Orphanet_86920
- Localized epidermolysis bullosa simplex / Orphanet_79400
IMPC phenotypes (gene matching)
MGI phenotypes (gene matching)
- abnormal hair follicle morphology / MGI
- distended hair follicles / MGI
- alopecia / MGI
- sparse hair / MGI
- short hair / MGI
- loss of eyelid cilia / MGI
- abnormal hair cycle / MGI
- abnormal colon morphology / MGI
- abnormal intestinal mucosa morphology / MGI
- deformed nails / MGI
- long toenails / MGI
- abnormal hepatocyte morphology / MGI
- abnormal mammary gland morphology / MGI
- absent mammary gland / MGI
- abnormal sebaceous gland morphology / MGI
- sebaceous gland atrophy / MGI
- abnormal skin condition / MGI
- flaky skin / MGI
- shiny skin / MGI
- thin skin / MGI
- thick skin / MGI
- translucent skin / MGI
- skin ridges / MGI
- wrinkled skin / MGI
- skin lesions / MGI
- skin hyperplasia / MGI
- abnormal epidermal layer morphology / MGI
- thick epidermis / MGI
- epidermal hyperplasia / MGI
- abnormal epidermis stratum granulosum morphology / MGI
- abnormal epidermis stratum corneum morphology / MGI
- hyperkeratosis / MGI
- abnormal dermal layer morphology / MGI
- thick dermal layer / MGI
- dermal cysts / MGI
- decreased body weight / MGI
- decreased body size / MGI
- curly vibrissae / MGI
- wavy vibrissae / MGI
- loss of vibrissae / MGI
- short vibrissae / MGI
- abnormal eyelid morphology / MGI
- Meibomian gland atrophy / MGI
- abnormal nursing / MGI
- abnormal coat appearance / MGI
- decreased IgM level / MGI
- abnormal thymus involution / MGI
- eye inflammation / MGI
- acanthosis / MGI
- abnormal lactation / MGI
- female infertility / MGI
- increased leukemia incidence / MGI
- abnormal skin morphology / MGI
- abnormal hair growth / MGI
- premature death / MGI
- abnormal vibrissa morphology / MGI
- abnormal lymph node secondary follicle morphology / MGI
- abnormal immunoglobulin level / MGI
- increased IgG level / MGI
- granulomatous inflammation / MGI
- abnormal keratinocyte differentiation / MGI
- glomerulonephritis / MGI
- decreased ovulation rate / MGI
- hair follicle degeneration / MGI
- epidermal cyst / MGI
- cochlear ganglion hypoplasia / MGI
- thymus atrophy / MGI
- abnormal hair shaft morphology / MGI
- abnormal hair follicle dermal papilla morphology / MGI
- hairless / MGI
- lymph node inflammation / MGI
- thin hypodermis / MGI
- decreased cochlear inner hair cell number / MGI
- decreased cochlear outer hair cell number / MGI
- absent cochlear hair cell stereocilia / MGI
- absent linear vestibular evoked potential / MGI
- decreased thymus weight / MGI
- decreased T cell number / MGI
- abnormal dermis reticular layer morphology / MGI
- decreased T cell proliferation / MGI
- abnormal Meibomian gland morphology / MGI
- increased susceptibility to autoimmune disorder / MGI
- immune system phenotype / MGI
- hematopoietic system phenotype / MGI
- loose skin / MGI
- increased macrophage cell number / MGI
- thick eyelids / MGI
- thin retinal ganglion layer / MGI
- thin retinal inner plexiform layer / MGI
- abnormal vibrissa number / MGI
- progressive hair loss / MGI
- hypergranulosis / MGI
- epidermis stratum granulosum hyperplasia / MGI
- enlarged inguinal lymph nodes / MGI
- enlarged popliteal lymph nodes / MGI
- abnormal nipple development / MGI
- abnormal skin appearance / MGI
- abnormal Meibomian gland acinus morphology / MGI
- abnormal vibrissa follicle morphology / MGI
- abnormal skin adnexa physiology / MGI
- abnormal hair follicle infundibulum morphology / MGI
- dilated hair follicle infundibulum / MGI
- abnormal hair follicle outer root sheath morphology / MGI
- abnormal hair follicle inner root sheath morphology / MGI
- absent hair follicle dermal papilla / MGI
- dilated hair follicles / MGI
- integument phenotype / MGI
- preweaning lethality, incomplete penetrance / MGI
- lymph node medullary cord hyperplasia / MGI
- small sebaceous gland / MGI
- decreased sebocyte cell number / MGI
- Meibomian gland cyst / MGI
- decreased nipple number / MGI
- thymus cortex atrophy / MGI
- abnormal eyelid margin morphology / MGI
- decreased small intestinal villus height / MGI
- abnormal forehead morphology / MGI
- abnormal piliary canal morphology / MGI
- dilated piliary canal / MGI
Literature references
- The role of lipoxygenases in epidermis.;Krieg Peter, Fürstenberger Gerhard, ;2014;Biochimica et biophysica acta;1841;390-400; 23954555
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