Prop1<df> Spontaneous Allele Detail MGI Mouse (MGI:1856842)

Prop1^df
Spontaneous Allele Detail

Nomenclature

Symbol:	Prop1^df
Name:	paired like homeodomain factor 1; Ames dwarf
MGI ID:	MGI:1856842
Synonyms:	df, DW, Prop1^-
Gene:	Prop1 Location: Chr11:50764308-50767134 bp, - strand Genetic Position: Chr11, 25.0 cM

Mutation
origin

Strain of Origin:

Goodale large mice x pink-eyed stock

Mutation
description

Allele Type:	Spontaneous
Mutation:	Single point mutation
	A T-to-C transition results in a serine to proline substitution within the alpha1 helix of the homeodomain (amino acid 83). (J:36967)
Inheritance:	Recessive

Find Mice (IMSR)

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

Carrying this Mutation:	Mouse Strains: 1 strain available Cell Lines: 0 lines available
Carrying any Prop1 Mutation:	1 strain or line available

Expression

In Mice Carrying this Mutation:

18 assay results

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	hm3	hm4	cx5
cellular						√
increased apoptosis						√
		hm1	hm2	hm3	hm4	cx5
endocrine/exocrine glands		√	N		√	√
endocrine/exocrine glands phenotype			N		N
abnormal pituitary gland morphology		√
abnormal pituitary gland development		√
abnormal Rathke's pouch						√
pituitary gland hypoplasia		√
absent somatotrophs					√
decreased thyrotroph cell number					√
small adenohypophysis					√
absent gonadotrophs						√
absent adenohypophysis						√
absent corpus luteum					√
absent ovarian follicles					√
small ovary					√
small thyroid gland					√
		hm1	hm2	hm3	hm4	cx5
growth/size		√			√
decreased body size		√
proportional dwarf					√
		hm1	hm2	hm3	hm4	cx5
homeostasis/metabolism				√	√	√
abnormal enzyme/coenzyme activity				√
decreased pituitary hormone level						√
decreased circulating prolactin level					√
decreased follicle stimulating hormone level					√
decreased circulating follicle stimulating hormone level					√
decreased luteinizing hormone level					√
decreased growth hormone level						√
decreased circulating growth hormone level					√
decreased thyroid-stimulating hormone level						√
decreased circulating thyroid-stimulating hormone level					√
		hm1	hm2	hm3	hm4	cx5
life span/aging			√
premature death			√
		hm1	hm2	hm3	hm4	cx5
nervous system		√			√	√
abnormal pituitary gland morphology		√
abnormal pituitary gland development		√
abnormal Rathke's pouch						√
pituitary gland hypoplasia		√
absent somatotrophs					√
decreased thyrotroph cell number					√
small adenohypophysis					√
absent gonadotrophs						√
absent adenohypophysis						√
		hm1	hm2	hm3	hm4	cx5
reproductive system					√
absent corpus luteum					√
absent ovarian follicles					√
small ovary					√
female infertility					√
male infertility					√

		hm1	hm2	hm3	hm4	cx5
Disease Models			√		√
Pituitary Hormone Deficiency, Combined, 2; CPHD2			√		√

Phenotypic
data by
genotype

Phenotypic Data by Genotype

(show or hide all phenotypic details)

Genotype

Allelic Composition

Genetic Background

hm1

Prop1^df/Prop1^df

hm2 Disease Model

Prop1^df/Prop1^df

involves: C57BL/6J

hm3

Prop1^df/Prop1^df

Not Specified

hm4 Disease Model

Prop1^df/Prop1^df

STOCK Prop1^df

cx5

Lhx4^tm1Ssp/Lhx4^tm1Ssp
Prop1^df/Prop1^df

involves: 129S2/SvPas * C57BL/6 * CF-1 * Goodale large mice * pink-eyed stock

Disease
models

Mouse Models of Human Disease	Note	Genotype			Ref(s)
			Allelic Composition	Genetic Background
Models with phenotypic similarity to human diseases associated with human PROP1.
Pituitary Hormone Deficiency, Combined, 2; CPHD2 OMIM ID: 262600		hm2	Prop1^df/Prop1^df	involves: C57BL/6J	J:94409
		hm4	Prop1^df/Prop1^df	STOCK Prop1^df	5

Notes

The Ames dwarf mutation arose spontaneously in descendants of a cross of the Goodale large mouse stock to a pink-eyed stock.

References

Original:	J:64260 Schaible RH et al., "df - Ames dwarf" Mouse News Lett 1961;25():35
All:	85 reference(s)

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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