|  Help  |  About  |  Contact Us

Allele : Pou1f1<dw> POU domain, class 1, transcription factor 1; dwarf

Primary Identifier  MGI:1856024 Allele Type  Spontaneous
Gene  Pou1f1 Inheritance Mode  Recessive
Strain of Origin  STOCK Pmel<si> Is Recombinase  false
Is Wild Type  false
description  Phenotypic Similarity to Human Syndrome: Secondary Hypothyroidism J:144823

This mutation arose in a stock of silver mice obtained from an English fancier (J:13120). Homozygous mutant mice are about one-fourth to one-third normal size and are sterile. The small size is due to a defective anterior pituitary in which there is a great deficiency of GH-producing, PRL-producing, and TSH-producing cells (J:6754, J:7211, J:12161). The anterior pituitary of the Pit1dw homozygote is already abnormal at birth with no identifiable GH or PRL cells (J:6684). GH and PRL synthesis is not detectable at any stages from birth to 6 weeks of age (J:6589), and there is probably also a deficiency of TSH and corticotropin (J:19241). Adult dwarf mouse pituitaries retain an embryonic, incompletely differentiated form of corticotrophs (J:13323). The defects in growth and fertility may be corrected by pituitary implants (J:13139) or by administration of pituitary hormones (J:30695, J:5085).

Two populations of cells give rise to thyrotrophs in the anterior pituitary in developing mouse embryos. The first population arises at day 12 in the rostral tip of the gland. This population is independent of Pit1, as it appears in Pit1dw mice, but it disappears by birth. The second population, which arises in the caudomedial portion of the gland at embryonic day 15.5, is Pit1-dependent, and is absent in Snell dwarf mice(J:17223).

Pit1dw mice have been reported to have a defective immune response that primarily affects the T cell system (J:19990), but other authors (J:6241, J:5638) have been unable to confirm these findings and attribute the previous results to secondary effects of dwarfing on overall vigor and nutritional status. Cross (J:2020) has shown that Pit1dw homozygous mice do develop normal immunocompetence, but that this development is delayed relative to that in normal littermates. Dwarf homozygotes have a severe deficiency of dopamine in the median eminence (J:6652).

molecularNote  A G-to-T transversion mutation in codon 261 converts a tryptophan residue in the homeodomain to a cysteine in the encoded protein (p.W261C).
  • mutations:
  • Single point mutation
  • synonyms:
  • Pit1<dwSn>,
  • Snell-Bagg pituitary dwarf,
  • Snell's dwarf,
  • Pit1<dwSn>,
  • Pit1<dw>,
  • dw,
  • Pit1<dw>,
  • dw,
  • dwarf,
  • Snell's dwarf,
  • Snell-Bagg pituitary dwarf,
  • dwarf
Quick Links:
 
Quick Links:
 

1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

11 Carried By

0 Driven By

104 Publication categories