This C57BL/10Sn congenic strain carries two closely linked Chromosome 2 alleles, pallid (Bloc1s6pa) and the minor histocompatibility 3e allele along with the Chromosome 2 black and tan allele (at).
Read More +Genetic Background | Generation |
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Allele Type | Gene Symbol | Gene Name |
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Spontaneous | a | nonagouti |
Allele Type | Gene Symbol | Gene Name |
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Spontaneous | Bloc1s6 | biogenesis of lysosomal organelles complex-1, subunit 6, pallidin |
Marker Symbol | Marker Name | |
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H3 | histocompatibility 3 |
This minor histocompatibility 3 (H3e) congenic strain is also carrying the closely linked pallid mutation (Bloc1s6pa) as well as the black and tan allele of nonagouti also residing on Chromosome 2. Histocompatibility 3 is one of several loci isolated and identified by Dr. George Snell and co-workers. Histocompatibility gene differences were identified by generating congenic resistant strains and testing for resistance to transplantable tumors. Homozygous pallid mice have pink eyes, a diluted coat color and their viability is slightly reduced. Some homozygotes have slightly abnormal behavior, with abnormal postural responses and head tilting due to the absence of otoliths in the sacculus and utriculus in many but not all mutant mice. The effect of pallid on behavior and otolith morphology appears to be a result of manganese deficiency. Homozygotes display defective mucopolysaccharide synthesis in the otolith matrix and a slower rate of transport of manganese, L-dopa, and L-tryptophane in the brain. Homozygotes have elevated basal and testosterone-induced levels of the kidney lysosomal enzymes b-glucuronidase, b-galactosidase, and a-mannosidase, accompanied by lowered enzyme excretion in the urine. Pallid mice have a deficiency in serum a1-antitrypsin and have been proposed as a model of genetic a1-antitrypsin deficiency. Lung lesions similar to those seen in human emphysema are found in these mice, and are attributed, like human hereditary emphysema, to a decreased capacity to inhibit serum elastase although liver a1-antitrypsin activity is normal. Pallid mice have prolonged bleeding time due to a platelet storage pool deficiency (SPD) characterized by a normal platelet number but a deficiency in the number of platelet dense granules and in the serotonin, ATP, and ADP content of the granules. Two other mouse coat color mutants, muted (Bloc1s5mu) and mocha (Ap3d1mh), present a similar concatenation of pigment, otolith, and platelet SPD abnormalities, which also occur in human Hermansky-Pudlak syndrome.
This strain was developed by G. Snell and he referred to it as B10.PA-H3e. It was previously called B10-pa H-3e at and was derived by repeated backcrossing of pa H-3e We Un from B6-pa/Re to strain B10.UW (Stock No. 000419). The allele at in B10.PA-Bloc1s6pa H3e at/SnJ was derived from B10.UW. B10.PA-Bloc1s6pa H3e at/SnJ embryos were cryopreserved in 1996 at generation N11F76.
Allele Name | black and tan |
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Allele Type | Spontaneous |
Allele Synonym(s) | |
Gene Symbol and Name | a, nonagouti |
Gene Synonym(s) | |
Strain of Origin | English fancy stock |
Chromosome | 2 |
General Note | This allele is recessive to A and Aw on the dorsum and dominant to all agouti alleles on the ventrum except for Aw from which it is indistinguishable (J:78801) . |
Molecular Note | This allele comprises a 6 kb insertion containing a retrovirus-like transposable element VL30 and a single 526 bp repeat into the first intron of the agouti gene at the same position as for alleles a and Aw. |
Allele Name | pallid |
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Allele Type | Spontaneous |
Allele Synonym(s) | pa; Pldnsuppa/sup; Pldnpa |
Gene Symbol and Name | Bloc1s6, biogenesis of lysosomal organelles complex-1, subunit 6, pallidin |
Gene Synonym(s) | |
Strain of Origin | wild |
Chromosome | 2 |
Molecular Note | The C to T substitution at coding nucleotide 205 introduces a premature stop codon at arginine codon 69 (p.R69*) in pallid mice. Through Northern analysis, a single mRNA of about 2.5kb was found in reduced levels compared to wild-type. |
Marker Synonym(s) | |
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Chromosome(s) | 2 |
When using the B10.PA-Bloc1s6pa H3e at/SnJ mouse strain in a publication, please cite the originating article(s) and include JAX stock #000477 in your Materials and Methods section.
Facility Barrier Level Descriptions
Service/Product | Description | Price |
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Homozygous for Pldn<pa>, Homozygous for H3<e>, Homozygous for a<t>, 1 pair minimum |
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