These mice carry the spontaneous Hertwig's anemia mutation (an, now identified to be an allele of the Cdk5rap2 gene) and characterized by a mild macrocytic anemia.Read More +
Homozygous mutants are anemic at birth, are small, and usually die within a few days. The anemia can be seen as early 12 days of gestation and persists throughout life. The white cell count is also much reduced. Adult an/an mice of both sexes have fewer definitive germ cells than do normal littermates and seldom produce offspring. Testicular tubules of newborn an/an males contain primordial germ cells, but almost no spermatogenesis is seen in adult testes. Older an/an mice (beyond 6 to 8 months) frequently develop eye opacities, lose their hair completely, and become emaciated and kyphotic
The mutation, Hertwig's anemia (an ), was an inherited macrocytic anemia that first appeared in offspring of a heavily irradiated male mouse in the 1940s. The mutation has since been identified as an allele of the Cdk5rap2 gene and has been highly backcrossed to the C57BL/6J and the WB/Re inbred strains. A dominant light brown pigment marker, tyrosinase-related protein 1; light (TrypB-lt), closely linked to Cdk5rap2an and fixed on both the WB and B6 an stocks during their development, provides a visible phenotypic marker of +/+, an/+, and an/an mice. The WB.Cg-Cdk5rap2an/BrkJ congenic strain was cryopreserved at generation N74pN1 in 2007.
|Allele Name||Hertwig's anemia|
|Allele Type||Radiation induced (Modified isoform(s))|
|Gene Symbol and Name||Cdk5rap2, CDK5 regulatory subunit associated protein 2|
|Gene Synonym(s)||2900018K03Rik; 2900018K03Rik; C48; Cep215; Hertwig's anemia; MCPH3; MGC:38528; RIKEN cDNA 2900018K03 gene; an; an; mKIAA1633|
|Strain of Origin||Not Specified|
|Molecular Note||Exon 4 is inverted which results in an in-frame 111 bp deletion with the loss of exon 4 from the mRNA. Northern analysis demonstrated that exon 4 was uniformly omitted from the mutant mRNA.|
|Gene Symbol and Name||Tyrp1, tyrosinase-related protein 1|
|Gene Synonym(s)||B; CAS2; CATB; GP75; OCA3; Oca3; TRP; TRP-1; TRP1; TYRP; Tyrp; Tyrp; b; b-PROTEIN; brown; iris stromal atrophy; isa; isa; tyrosinase-related protein|
|Strain of Origin||C58|
|Molecular Note||A C-to-T transition at position 113 is predicted to result in an arginine to cysteine substitition at codon 38.|
The mutation Hertwig's anemia is separated from the light brown coat color marker by approximately 2 cM. So long as there is no recombination between these loci the mice homozygous for Hertwig's anemia will be homozygous for the light mutation and can be identified by their light brown coat color, with brown at the tips of the hair and the rest of the shaft almost white. Homozygous males that survive are sterile and homozygous females fail to deliver live offspring due to parturitional difficulties. Heterozygotes have increased brown pigment and can be distinguished from homozygotes as early as 2 weeks of age. Black mice are predicted to be wild-type, lacking even one copy of the Hertwig's anemia mutation, again contingent upon no recombination between these loci.
When using the Hertwig's anemia mouse strain in a publication, please cite the originating article(s) and include JAX stock #002307 in your Materials and Methods section.
|Heterozygous or wildtype for an|
We will fulfill your order by providing at least two carriers for each strain ordered. The total number, sex, and genotypes provided will vary, although typically 8 or more animals are provided. Please check genotypes which will be recovered. While the genotypes of all animals produced will be communicated to you prior to scheduling shipment, the genotypes of animals provided may not reflect the mating scheme and genotypes described in the strain description. Animals are typically ready to ship in 11-14 weeks. If a second recovery is required to produce the minimum number of animals, then delivery time would increase to approximately 25 weeks. If we fail to produce animals of the correct genotype, you will not be charged. We cannot guarantee the reproductive success of mice shipped to your facility. If the mice are lost after the first three days (post-arrival) or do not produce progeny at your facility, a new order and fee will be necessary.
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