Pou1f1<dw> Spontaneous Allele Detail MGI Mouse (MGI:1856024)

Pou1f1^dw
Spontaneous Allele Detail

Nomenclature

Symbol:	Pou1f1^dw
Name:	POU domain, class 1, transcription factor 1; dwarf
MGI ID:	MGI:1856024
Synonyms:	dw, dwarf, Pit1^dw, Pit1^dwSn, Snell's dwarf, Snell-Bagg pituitary dwarf
Gene:	Pou1f1 Location: Chr16:65520847-65535250 bp, + strand Genetic Position: Chr16, 43.5 cM

Pou1f1^dw/Pou1f1^dw

Show the 1 image(s) involving this allele.

Mutation
origin

Strain of Origin:

STOCK Si^si

Mutation
description

Allele Type:	Spontaneous
Mutation:	Single point mutation
	A G-to-T transversion mutation in codon 261 is predicted to convert a tryptophan residue in the homeodomain to a cysteine in the encoded protein. (J:10774)
Inheritance:	Recessive

Find Mice (IMSR)

Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)

Carrying this Mutation:	Mouse Strains: 2 strains available Cell Lines: 0 lines available
Carrying any Pou1f1 Mutation:	4 strains or lines available

Phenotype
summary

Phenotype Summary by Mammalian Phenotype terms

(show or hide all annotated terms)

Genotypes are listed in the next section.

Key:

hm	homozygous	ht	heterozygous
cn	conditional genotype	cx	complex: > 1 genome feature
tg	involves transgenes	ot	other: hemizygous, indeterminate,...
N	normal phenotype		expected model not found

Affected Systems	Genotypes:	hm1	hm2	ht3
craniofacial			√
abnormal molar morphology			√
		hm1	hm2	ht3
endocrine/exocrine glands		√	√
absent lactotrophs		√	√
absent somatotrophs		√	√
abnormal pituitary gland development		√
pituitary gland hypoplasia		√
decreased thyrotroph cell number			√
		hm1	hm2	ht3
growth/size		√	√
decreased body size		√
proportional dwarf			√
		hm1	hm2	ht3
hematopoietic system		√
decreased B cell number		√
		hm1	hm2	ht3
homeostasis/metabolism			√
decreased growth hormone level			√
decreased prolactin level			√
decreased circulating prolactin level			√
		hm1	hm2	ht3
immune system		√
decreased B cell number		√
		hm1	hm2	ht3
life span/aging		√		√
extended life span		√		√
		hm1	hm2	ht3
nervous system		√	√
absent lactotrophs		√	√
absent somatotrophs		√	√
abnormal pituitary gland development		√
pituitary gland hypoplasia		√
decreased thyrotroph cell number			√
		hm1	hm2	ht3
reproductive system			√
infertility			√

Phenotypic
data by
genotype

Phenotypic Data by Genotype

(show or hide all phenotypic details)

Genotype	Allelic Composition	Genetic Background
hm1	Pou1f1^dw/Pou1f1^dw	DW/J Pou1f1^dw
hematopoietic system decreased B cell number (J:110683) the frequency of B lineage cells is significantly reduced treatment with T4 restores B lineage deficiency myelopoiesis and thymopoiesis were normal immune system decreased B cell number (J:110683) the frequency of B lineage cells is significantly reduced treatment with T4 restores B lineage deficiency myelopoiesis and thymopoiesis were normal life span/aging extended life span (J:73731) lifespan of female mice housed with normal-sized control females (caretakers) is increased by 50% (872 days) over median life span (579 days) of controls lifespan of male mice housed with control males is reduced by 6%, however, when transferred to female caretakers the two oldest males lived 24% longer than controls endocrine/exocrine glands absent lactotrophs (J:7211) absent somatotrophs (J:7211) abnormal pituitary gland development (J:108961) at 8 days of age there are fewer actively dividing cells in the pituitary but no abnormal increase in apoptosis at 1 day of age a slight increase in apoptosis in the pituitary is found pituitary gland hypoplasia (J:108961) although normal size and morphology at 1 day of age, the pituitary is smaller than normal by 11 days of age due to reduced growth of the anterior lobes nervous system absent lactotrophs (J:7211) absent somatotrophs (J:7211) abnormal pituitary gland development (J:108961) at 8 days of age there are fewer actively dividing cells in the pituitary but no abnormal increase in apoptosis at 1 day of age a slight increase in apoptosis in the pituitary is found pituitary gland hypoplasia (J:108961) although normal size and morphology at 1 day of age, the pituitary is smaller than normal by 11 days of age due to reduced growth of the anterior lobes growth/size decreased body size (J:108961) although homozygotes are the same size as control littermates at birth, they begin to be smaller at 2 weeks of age, are noticably smaller by 3 weeks of age, and are only one third to one quarter the size of normal littermates as adults
Genotype	Allelic Composition	Genetic Background
hm2	Pou1f1^dw/Pou1f1^dw	Not Specified
growth/size proportional dwarf (J:13120) mature individuals are only one fourth the weight of their normal sibs reduced size begins after 14th day reproductive system infertility (J:13120) both males and females are entirely sterile homeostasis/metabolism decreased growth hormone level (J:6589) GH was undetectable from birth to 6 weeks of age decreased prolactin level (J:6589) PRL was undetectable from birth to 6 weeks of age decreased circulating prolactin level (J:6754) minimal concentrations of PRL were detected in the plasma endocrine/exocrine glands absent lactotrophs (J:6754) PRL-producing mammotropes were absent absent somatotrophs (J:7211) GH-producing somatotropes were absent decreased thyrotroph cell number (J:12161) almost complete absence of TSH-producing thyrotroph nervous system absent lactotrophs (J:6754) PRL-producing mammotropes were absent absent somatotrophs (J:7211) GH-producing somatotropes were absent decreased thyrotroph cell number (J:12161) almost complete absence of TSH-producing thyrotroph craniofacial abnormal molar morphology (J:13120) mutants have normal molar crowns but reduced roots
Genotype	Allelic Composition	Genetic Background
ht3	Pou1f1^dw/Pou1f1^dw-J	(DW/J x C3H/HeJ)F1
life span/aging extended life span (J:73731) lifespan of female mice housed with normal-sized control females (caretakers) is increased by 50% (1231 days) over median life span (814 days) of controls lifespan of male mice housed with normal-sized control females (caretakers) is increased by 29% (1068 days) over median life span (827 days) of controls

Notes

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 Pit1^dw 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 Pit1^dw 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).

Pit1^dw 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 Pit1^dw 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).

References

Original:	J:13120 Snell GD, "DWARF, A NEW MENDELIAN RECESSIVE CHARACTER OF THE HOUSE MOUSE." Proc Natl Acad Sci U S A 1929 Sep 15;15(9):733-4
All:	70 reference(s)

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