Strain Name: |
B6C3Fe a/a-Papss2bm Hps1ep Hps6ru/J |
|---|---|
Stock Number: |
000278 |
Availability: | Repository-Cryopreserved |
General Terms and Conditions |
| Former Name |
B6C3Fe-a/a-Papss2bm Hps1ep ru (Changed: 15-DEC-04
) |
|
B6C3Fe-a/a-Papss2bm ep ru (Changed: 15-DEC-04
) | |
| Genes & Alleles | Hps1; Hps1ep; Hps6; Hps6ru; Papss2; Papss2bm; a; |
Product Information
Strain Details
Type JAX® GEMM® Strain - Mutant Stock Additional information on JAX® GEMM® Strains. Type JAX® GEMM® Strain - Spontaneous Mutation Species laboratory mouse Generation N50 Strain Development
The mutation brachymorphic (Papss2bm) arose spontaneously in a sibling mated line of mahogany (Atrnmg) at F12 in 1964. Mahogany had arisen on a mixed C3H Swiss background at the Jackson Laboratory. Brachymorphic was outcrossed once to C57BL/6J and then sibling mated. At F15 in 1969 a homozygous brachymorphic mouse (Papss2bm/Papss2bm) was outcrossed to a pale ear (Hps1ep) ruby (Hps6ru) homozygote. This was an F2 from a cross of a sibling mated pale ear ruby line inbred to F13 then bred with a C57BL/6J. Pale ear (Hps1ep) had arisen in C3HeB/FeJ at the Jackson Laboratory in 1959 and been backcrossed onto C57BL/6J to N6 or more. Ruby (Hps6ru) had arisen in a heterogeneous stock before 1945 and was from a multiple non-inbred recessive stock of Dr. G. D. Snell. The F1's of this cross were mated and selected F2's were mated to produce the triple homozygote with all three loci on the same chromosome. The triple homozygote in which all three loci were closely linked was crossed once to C57BL/6J and then the stock was sibling mated by forced heterozygosis to F7 before it was crossed to the B6C3Fe a/a hybrid in 1972. Backcrossing to the hybrid was continued using the cross-intercross method and the resulting strain was cryopreserved in 1995 by mating triple homozygous males at N49 to B6C3Fe a/a F1 females.
Gene & Allele Details
| Allele Symbol | Hps1ep | ||
|---|---|---|---|
| Allele Name | pale ear | ||
| Common Name(s) | ep; | ||
| Strain of Origin | C3HeB/FeJ | ||
| Gene Symbol and Name | Hps1, Hermansky-Pudlak syndrome 1 homolog (human) | ||
| Chromosome | 19 | ||
| Gene Common Name(s) | 6030422N11Rik; BB405864; HPS; MGC5277; RIKEN cDNA 6030422N11 gene; ep; expressed sequence BB405864; pale ear; | ||
| General Note | Genbank ID for mutant allele: AF003867 | ||
| Molecular Note | The underlying mutation responsible for the phenotype in the pale ear mouse was identified as an insertion of an intracisternal A particle in a protein coding- 3' exon of the Hps1 gene. Northern analysis demonstrated qualitative differences in mRNA between wild type and homozygous mutant animals. [MGI Ref ID J:42484] | ||
| Allele Symbol | Hps6ru | ||
| Allele Name | ruby-eye | ||
| Common Name(s) | ru; | ||
| Strain of Origin | STOCK Sisi piebald | ||
| 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 | Papss2bm | ||
| Allele Name | brachymorphic | ||
| Common Name(s) | bm; | ||
| Strain of Origin | LDJ/Le-Grem1 | ||
| Gene Symbol and Name | Papss2, 3'-phosphoadenosine 5'-phosphosulfate synthase 2 | ||
| Chromosome | 19 | ||
| Gene Common Name(s) | 1810018P12Rik; AI159688; ATPSK2; RIKEN cDNA 1810018P12 gene; SK2; bm; brachymorphic; expressed sequence AI159688; | ||
| Molecular Note | A point mutation resulting in a glycine to arginine substitution at the highly conserved codon 79 is predicted to be responsible for the mutant phenotype seen in the brachymorphic mouse. [MGI Ref ID J:49338] [MGI Ref ID J:50114] | ||
| Allele Symbol | a | ||
| Allele Name | nonagouti | ||
Control Information
| Control | ||
|---|---|---|
| Wild-type from the colony | ||
| Considerations for Choosing Controls | ||
Related Strains
Strains carrying Hps1ep allele
000050 B6.C3Fe-H51 Hps1ep /ByJ 000525 B6.C3Fe-Hps1ep/J 006930 B6.C3Fe-Hps1ep/JLlp View Strains carrying Hps1ep (3 strains)
000103 B6.Cg-Hps6ru/J 006929 B6.Cg-Hps6ru/JLlp 000259 JE/LeJ
000205 B6C3Fe a/a-Papss2bm/J
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:Hps1ep related
Hps6ru relatedDermatology Research
Color and White Spotting Defects
Hematological Research
Platelet Defects (platelet storage pool deficiency)
Internal/Organ Research
Kidney Defects (lysosomal enzyme abnormalities)
Papss2bm relatedDermatology 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
Developmental Biology Research
Growth Defects
Skeletal Defects
Mouse/Human Gene Homologs
Arthritis
References
Additional ReferencesPrice and Supply Information
| Strain Name: | B6C3Fe a/a-Papss2bm Hps1ep Hps6ru/J |
| Stock Number: | 000278 |
Price Details
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Supply Details
| Standard Supply | Repository-Cryopreserved. Must Be Recovered. Please refer to the 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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