- 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 |
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 |
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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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