C3H/HeJ-Pou1f1^dw-J/J

Stock number: 000510
Product name: dwarf Jackson
Research areas: Developmental Biology Research, Endocrine Deficiency Research, Immunology, Inflammation and Autoimmunity Research, Mouse/Human Gene Homologs, Reproductive Biology Research

Description

These mice carry a spontaneous mutation at the Pou1f1 locus characterized by proportional dwarfing, sterility, and hypothyroidism.

Detailed description

Mice homozygous mice for the dwarf Jackson spontaneous mutation (Pou1f1^dw-J) have a phenotype very similar to mice homozygous for the original dwarf mutation (Pou1f1^dw). Homozygous mutant mice are characterized by severe proportional dwarfing, sterility, and hypothyroidism. Adult dwarf mice are about one-fourth to one-third the size of wildtype mice. There is a lack of growth hormone, prolactin and thyroid stimulating hormone producing cells in the anterior pituitary leading to severe endocrine deficiency of these hormones. Homozygous mutant mice show a transient loss in cortical thymocytes associated with the primary defect in anterior pituitary.

Development

The dwarf Jackson mutation (Pou1f1^dw) arose spontaneously in strain C3H/HeJ at generation F136 in 1973 at The Jackson Laboratory. It was maintained by mating heterozygous tested sibling pairs until generation F15. It was then maintained by ovarian transplant using the cross-intercross system to generation N6 and then again by tested heterozygous pair matings. It was cryopreserved in 1983 by mating heterozygous (Pou1f1^dw-J/J) males at generation F136+16N6F1 to C3H/HeJ females.

Allele

Symbol: Pou1f1^dw-J
Name: dwarf Jackson
MGI accession ID: MGI:1856025
Generation method: Spontaneous
Marker symbol: Pou1f1
Marker name: POU domain, class 1, transcription factor 1
Chromosome: 16
Strain of origin: C3H/HeJ
Molecular note: The mutation was characterized by Southern blot as either a chromosomal inversion or an insertion of greater than 4kb in the gene. PCR analysis revealed that most of exon 3 is intact, but the exact break points are not established.
General note: This remutation of the Snell dwarf gene occurred in the C3H/HeJ strain (J:6342). Mutant mice homozygous for Pit1^dw-J, like homozygotes for Pit1^dw, lack PIT1 protein activity and have no lactotrophs, thyrotrophs, or somatotrophs (J:10774).