Strain Name: |
JE/LeJ |
|---|---|
Stock Number: |
000259 |
Availability: | Repository-Cryopreserved |
General Terms and Conditions |
| Former Name |
Jerker (Changed: 15-DEC-04
) |
| Genes & Alleles | Espn; Espnje; Hps6; Hps6ru; f; |
Product Information
Strain Details
Type Inbred Strain Additional information on Inbred Strains. Type Segregating Inbred Type JAX® GEMM® Strain - Spontaneous Mutation Additional information on JAX® GEMM® Strains. Species laboratory mouse Generation F64 Appearance
nonagouti, dark slate color, ruby eyed, tail bends, ataxic
Related Genotype: a/a Hps6ru/Hps6ru f/f Espnje/Espnje
dark slate color, ruby eyed, tail bends
Related Genotype: a/a Hps6ru/Hps6ru f/f Espnje/+Important Note
This strain is homozygous for f and Hps6ru and segregating for Espnje.Strain Description
Mice homozygous for the jerker spontaneous mutation (Espnje) show behavior typical of the circling mutants - head-tossing, circling, and hyperactivity. Homozygous mutant mice are deaf from birth and have no detectable stimulus-related cochlear potential at any stage. The abnormal behavior and deafness are associated with postnatal degeneration of the sensory cells of the cochlea and the sacculus and utriculus in homozygotes. The primary influence of the jerker gene appears to be on the apical hair cells, not development of neural structures. Heterozygous jerker mice undergo a similar type of degeneration, but the onset is delayed. Auditory brainstem response is totally absent in homozygotes while heterozygous mice undergo a progressive impairment with age. JE/Le mice are also homozygous for the nonagouti (a), flexed tail (f), and ruby-eye (Hps6ru) mutations.
Mammalian Phenotype Terms assigned by genotype |
Gene & Allele Details
| Allele Symbol | Espnje | ||
|---|---|---|---|
| Allele Name | jerker | ||
| Common Name(s) | je; | ||
| Strain of Origin | fancier's dancing mouse | ||
| Gene Symbol and Name | Espn, espin | ||
| Chromosome | 4 | ||
| Gene Common Name(s) | DFNB36; DKFZp434A196; DKFZp434G2126; Je; je; jerker; | ||
| General Note |
Homozygotes are apparently deaf from birth and have no detectable stimulus-related cochlear potential at any stage (J:7124). The abnormal behavior and deafness are associated with postnatal degeneration of the sensory cells of the cochlea and the sacculus and utriculus in homozygotes (J:13046). The cuticular plate and stereocilia are sites of most extensive damage (J:1646, J:20708). Morphologically normal nerve terminals are, however, developed (J:19587). It is suggested that the primary influenceof the Espn gene is exerted on the apical hair cells, not on the development of neural structures per se (J:20651). Heterozygous Espnje/+ mice undergo a similar type of degeneration, but the onset is delayed. Auditory brainstem response is totally absent in Espnje/Espnje mice at all ages; in Espnje/+ mice it undergoes a progressive impairment with age, semiquantitatively correlated with pathology of the hair cells (J:1646, J:20708). | ||
| Molecular Note | A single nucleotide deletion (G) at position 2426 of the Espn gene results in a frameshift mutation and premature stop in the C-terminal actin binding domain. Normal levels of mRNA are observed, but no accumulation of protein is observed in the jerker mouse. [MGI Ref ID J:53411] | ||
| Allele Symbol | Hps6ru | ||
| Allele Name | ruby-eye | ||
| Common Name(s) | ru; | ||
| Strain of Origin | STOCK Si | ||
| Gene Symbol and Name | Hps6, Hermansky-Pudlak syndrome 6 | ||
| Chromosome | 19 | ||
| Gene Common Name(s) | 5330434M19Rik; FLJ22501; Hsp6; MGC20522; MGC93064; RIKEN cDNA 5330434M19 gene; RP11-302K17.1; ru; ruby eye; ruby-eye; | ||
| General Note | The ruby-eye mutation was found by Dunn (J:13122) in a silver piebald stock of Danforth. Homozygotes at birth have unpigmented eyes that later darken to a ruby color. The black pigment of the coat is diluted to a dark slate color, and the yellow pigment is diluted slightly. Ruby-eye in homozygous condition greatly reduces the number of melanocytes in the retina, ear skin, Harderian gland, nictitans (J:12970), and retinal pigment epithelium (J:6064). It has the same effect on shape and color of pigment granules as brown (Tyrpb), i.e., it makes the granules spheroidal rather than ovoid as in wild type, and it changes the color of the granules to dark brown (J:12970). The internal structure of the pigment granules is normal (J:5346, J:5001). This mutation has several effects in common with other mutations that reduce pigmentation (see Hps1). The ruby-eye mutation causes a reduced number of projections of retinal ganglion cells to the ipsilateral lateral geniculate nucleus (J:6064). The kidneyconcentration of lysosomal enzymes is elevated, probably because of a low rate of excretion into the urine. Lysosomal morphology is normal (J:6422). Ruby-eye mice have a platelet storage pool deficiency characterized by prolonged bleeding time, normal platelet number, and low platelet dense granule number and dense granule serotonin content (J:7327). A platelet function component related to atherosclerosis is blocked in homozygous ruby-eye mice though not in homozygous maroon mice (Hps5ru2-mr,J:29748). The Wdt2 gene located on Chr 1, a cell autonomous suppressor of pigment dilution gene effects (J:20796), suppresses the eye color effects of mutations at Hps6 and Hps5. Coat color dilution, which Wdt2 suppresses in Myo5a, Mlph, and Rab27a dilution genotypes, is not affected in mutant Hps6 or Hps5 homozygotes, or in a number of other dilution genotypes (J:29467). | ||
| Molecular Note | Sequence analysis identified an in frame deletion of codons 187, 188, and 189 encoding histidine, cysteine, and proline, respectively. [MGI Ref ID J:81444] | ||
| Allele Symbol | f | ||
| Allele Name | flexed tail | ||
| General Note |
Note that two conflicting reports (J:68377 and J:98445) state that the underlying genetic defect in the flexed tail mouse is in the Sfxn1 or the Smad5 gene. The flexed-tail mutation appeared in a stock maintained by Dr. H.R. Hunt at Michigan State College (J:12951). Homozygotes are small at birth and have a transitory hypochromic, microcytic anemia characterized by a large number of siderocytes containing non-heme iron granules. Most homozygotes also have flexed tail and a belly spot, but these arenot constant manifestations of the mutant. Because of the anemia there is probably greater postnatal mortality among f/f than among normal mice (J:14979). The anemia begins on the 12th day of embryonic life when the liver first starts to produce blood cells (J:14979). It is most intense at 15 days of gestation and still severe at birth, but by 2 weeks of age has disappeared. Although adults have normal blood values, their response to hemopoietic stress is defective (J:5439, J:27511). The results of numerous studies have led to the conclusion that the prenatal deficiency in number of erythrocytes and the defective response of adult erythropoietic cells are due to a delay in maturation of already committed erythroid stem cells, and that earlieruncommitted precursors are unaffected by f (J:5439, J:5654, J:5582). An additional effect of f in homozygotes is defective heme synthesis, which occurs in fetal reticulocytes but not in adult reticulocytes nor in erythroblasts at earlier stages of maturation. In fetal reticulocytes there is normal uptake of iron but poor incorporation into hemoglobin (J:5439), probably as a result of reduced activity of delta-aminolevulinate synthetase and dehydratase (J:5591). Fetal erythrocytes of f/f mice have more alpha than beta globin chains. In both f/f and wild type fetal erythrocytes there is more alpha- than beta-chain mRNA; probably some regulatory mechanism bringing about equal alpha- and beta-chain synthesis exists in wild type mice but is defective in f/f (J:5827, J:30711). The tail abnormalities are first noticeable on the 14th day of gestation as abnormal differentiation of the intervertebral discs (J:13090). The possibility that abnormal heme synthesis could cause the tail and pigment defects in f/f mice has been discussed (J:5591). It was suggested that flexed-tail might be a mutation in the mouse homolog Fancc of the gene defective in human Fanconi anemia, complementation group C, but no mutation in the Fancc gene or abnormalitiesin Fancc mRNA have been detected in f/f mutants (J:13598). Also, flexed-tail mice are not susceptible to increases in chromosomal aberrations induced by mitomycin C, a characteristic of Fancc mutant mice (J:35839). Allele arose on a genetically undefined stock in 1927 and was subsequently transferred onto several genetic backgrounds to create the congenic and recombinant inbred lines Je/Le-f/f, FL1/ReJ, WB/ReJ-f/f and C57BL/6J-f/f. The phenotypes listed above might be associated with any of thesestrains; in most cases it was not specified. | ||
| Molecular Note | Note that two conflicting reports (J:68377 and J:98445) state that the underlying genetic defect in the flexed tail mouse is in the Sfxn1 or the Smad5 gene. [MGI Ref ID J:128616] [MGI Ref ID J:68377] [MGI Ref ID J:98445] | ||
Control Information
| Control | ||
|---|---|---|
| Heterozygote from the colony | No control available for f | |
| Considerations for Choosing Controls | ||
Related Strains
Strains carrying Hps6ru allele
000103 B6.Cg-Hps6ru/J 006929 B6.Cg-Hps6ru/JLlp 000278 B6C3Fe a/a-Papss2bm Hps1ep Hps6ru/J View Strains carrying Hps6ru (3 strains)
002424 B6 x C3H/HeJ-Hps6ru-6J/J 005559 B6(129S4)-Hps6ru-7J/J
Research Applications
This mouse can be used to support research in many areas including:f related
Espnje relatedDevelopmental Biology Research
Skeletal Defects
Hematological Research
Anemia, Iron Deficiency and Transport Defects (microcytic) (iron deficiency)
Hps6ru relatedNeurobiology Research
Ataxia (Movement) Defects
Vestibular and Hearing Defects
Sensorineural Research
Vestibular and Hearing Defects
Dermatology Research
Color and White Spotting Defects
Hematological Research
Platelet Defects (platelet storage pool deficiency)
Internal/Organ Research
Kidney Defects (lysosomal enzyme abnormalities)
Mouse/Human Gene Homologs
Hermansky-Pudlak syndrome
References
Selected Reference(s)
Additional ReferencesZheng L; Sekerkova G; Vranich K; Tilney LG; Mugnaini E; Bartles JR. 2000. The deaf jerker mouse has a mutation in the gene encoding the espin actin-bundling proteins of hair cell stereocilia and lacks espins. Cell 102(3):377-85. [PubMed: 10975527] [MGI Ref ID J:53411]
Price and Supply Information
| Strain Name: | JE/LeJ |
| Stock Number: | 000259 |
Price Details
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Supply Details
| Standard Supply | Repository-Cryopreserved. Must Be Recovered. Please refer to pricing and supply notes for further information. |
|---|---|
| Supply Notes |
Cryorecovery - Standard. The recovery process begins when a signed agreement form is returned to the Customer Service Department after order placement. Although results vary by strain, at least two males and two females (two pairs) will be provided, typically within 15 weeks of our receipt of the signed agreement form. If the first recovery attempt is unsuccessful or only one pair is recovered, a second recovery will be done, extending the delivery time to approximately 25 weeks. At least one member of each pair will be of known genotype and will carry the mutation if it is a mutant strain. Please note that pairs may not reflect the mating scheme utilized by The Jackson Laboratory prior to cryopreservation of the strain. Mating schemes are sometimes modified for successful cryopreservation. Price represents a repository maintenance fee, which includes the cost of recovery of the strain from the cryopreservation resource and the periodic replacement of the frozen embryos used for recovery. Cryorecovery to establish a Dedicated Supply for greater quantities of mice. |
| Licensing | See General Terms and Conditions below |
| Control Information | View Control Information in Strain Details. |
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The Jackson Laboratory has rigorous genetic quality control and mutant gene genotyping programs to ensure the genetic background of JAX® Mice strains as well as the genotypes of strains with identified molecular mutations. JAX® Mice strains are only made available to researchers after meeting our standards. However, the phenotype of each strain may not be fully characterized and/or captured in the strain data sheets. Therefore, we cannot guarantee a strain's phenotype will meet all expectations. To ensure that JAX® Mice will meet the needs of individual research projects or when requesting a strain that is new to your research, we suggest ordering and performing tests on a small number of mice to determine suitability for your particular project.Ordering and Purchasing Information
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