T<hp> Spontaneous Allele Detail MGI Mouse (MGI:1856187)

T^hp
Spontaneous Allele Detail

Nomenclature

Symbol:	T^hp
Name:	brachyury; hairpin tail
MGI ID:	MGI:1856187
Gene:	T Location: Chr17:8627288-8635361 bp, + strand Genetic Position: Chr17, 4.02 cM

T^hp/+ male

Show the 1 image(s) involving this allele.

Mutation
origin

Strain of Origin:

AKR/J

Mutation
description

Allele Type:	Spontaneous
Mutation:	Deletion
	Restriction length polymorphisms and simple sequence variants were used to define the breakpoints of the deletion that comprises this allele. The proximal breakpoint of the deletion maps between D17Leh66EI and D17Leh66EII and the distal breakpoint is proximal to D17Mit122 but distal to D17Leh66D. The Qk locus is included in the deletion. (J:62654)
Inheritance:	Semidominant

Find Mice (IMSR)

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

Carrying this Mutation:	Mouse Strains: 3 strains available Cell Lines: 0 lines available
Carrying any T Mutation:	45 strains or lines available

Expression

In Mice Carrying this Mutation:

10 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	ht2	cx3	cx4
cardiovascular system			√
abnormal pericardium morphology			√
		hm1	ht2	cx3	cx4
embryogenesis			√		√
abnormal neural tube morphology/development			√		√
abnormal neural tube closure			√
open neural tube			√
spina bifida			√
abnormal notochord morphology			√
absent notochord			√
		hm1	ht2	cx3	cx4
endocrine/exocrine glands					√
abnormal testis cord formation					√
		hm1	ht2	cx3	cx4
growth/size			√
postnatal slow weight gain			√
		hm1	ht2	cx3	cx4
homeostasis/metabolism			√
edema			√
		hm1	ht2	cx3	cx4
lethality/prenatal-perinatal		√		√
prenatal lethality				√
embryonic lethality		√
		hm1	ht2	cx3	cx4
life span/aging				√
decreased survivor rate				√
		hm1	ht2	cx3	cx4
limbs/digits/tail			√	√
polydactyly			√
abnormal tail development			√
abnormal tail morphology				√
kinked tail			√
short tail			√
thick tail			√
		hm1	ht2	cx3	cx4
nervous system			√		√
abnormal neural tube morphology/development			√		√
abnormal neural tube closure			√
open neural tube			√
spina bifida			√
exencephaly			√
		hm1	ht2	cx3	cx4
other phenotype			√
maternal effect			√
		hm1	ht2	cx3	cx4
reproductive system			√	N	√
reproductive system phenotype				N
decreased litter size			√
abnormal testis cord formation					√
primary sex reversal					√
		hm1	ht2	cx3	cx4
skeleton			√
abnormal vertebral column			√
abnormal cervical vertebrae morphology			√
abnormal cervical atlas morphology			√
abnormal cervical axis morphology			√
abnormal sacral vertebrae morphology			√
short vertebral column			√

Phenotypic
data by
genotype

Phenotypic Data by Genotype

(show or hide all phenotypic details)

Genotype	Allelic Composition	Genetic Background
hm1	T^hp/T^hp	involves: AKR/J * C57BL/Gr * CBA/Gr
lethality/prenatal-perinatal embryonic lethality (J:5522) after implantation
Genotype	Allelic Composition	Genetic Background
ht2	T^hp/T⁺	involves: AKR/J * C57BL/Gr * CBA/Gr
limbs/digits/tail polydactyly (J:31524) on the hind feet of embryos inheriting the T^hp allele from their mother abnormal tail development (J:31524) at E12 the base of the tail is constricted; the thickness of the tail itself varies at E13 the tail distal to the constriction is thinned by E14 the tail is thinned to a filament which often drops off resulting in a blunt-ended tail or tail rudiment kinked tail (J:31524) varying degrees short tail (J:31524) shortened by varying amounts the only abnormality seen in older embryos thick tail (J:31524) degree of thickness varies reproductive system decreased litter size (J:31524) litters from carrier males and normal females are reduced compared to normal; litters from matings of carrier females and normal males are even smaller in size other phenotype maternal effect (J:31524) heterozygous offspring from carrier females and normal males are edematous and die before or at birth homeostasis/metabolism edema (J:31524) embryos inheriting the T^hp allele from their mother are edematous growth/size postnatal slow weight gain (J:31524) characteristic of mice inheriting the T^hp allele from their father embryogenesis abnormal neural tube morphology/development (J:31524) at E10 the neural tube of the tail region is often doubled or tripled in embryos inheriting the T^hp allele from their mother abnormal neural tube closure (J:31524) open neural tube (J:31524) characteristic of some E10 embryos inheriting the T^hp allele from their father spina bifida (J:31524) occurs at a low frequency among embryos inheriting the T^hp allele from their mother abnormal notochord morphology (J:31524) at E10 the notochord in the trunk is poorly differentiated and characteristic of embryos inheriting the T^hp allele from their father at E10 the notochord in the tail may be absent, swollen, or duplicated in embryos inheriting the T^hp allele from their father absent notochord (J:31524) at E10 the tail notochord may be absent in embryos inheriting the T^hp allele from their father cardiovascular system abnormal pericardium morphology (J:31524) inflation of the pericardium is seen in embryos inheriting the T^hp allele from their mother nervous system abnormal neural tube morphology/development (J:31524) at E10 the neural tube of the tail region is often doubled or tripled in embryos inheriting the T^hp allele from their mother abnormal neural tube closure (J:31524) open neural tube (J:31524) characteristic of some E10 embryos inheriting the T^hp allele from their father spina bifida (J:31524) occurs at a low frequency among embryos inheriting the T^hp allele from their mother exencephaly (J:31524) occurs in low frequency among embryos inheriting the T^hp allele from their mother skeleton abnormal vertebral column (J:31524) may end abruptly before or at the level of the second sacral vertebra abnormal cervical vertebrae morphology (J:31524) characteristic of embryos inheriting the T^hp allele from their father one or more may be incomplete dorsally abnormal cervical atlas morphology (J:31524) characteristic of embryos inheriting the T^hp allele from their father frequently incomplete dorsally abnormal cervical axis morphology (J:31524) characteristic of embryos inheriting the T^hp allele from their father frequently incomplete dorsally abnormal sacral vertebrae morphology (J:31524) short vertebral column (J:31524)
Genotype	Allelic Composition	Genetic Background
cx3	Igf2r^tm2Wag/Igf2r⁺ T^hp/T⁺	involves: 129/Sv * 129P2/OlaHsd * AKR/J * C57BL/6
lethality/prenatal-perinatal prenatal lethality (J:68721) when the allele is inherited paternally, fewer than expected mice are born however, unlike when only T^hp is inherited maternally, some mice are recovered at birth life span/aging decreased survivor rate (J:68721) when is Igf2r^tm2Wag inherited paternally and T^hp is maternally, some mice survive birth and reach maturity despite some prenatal lethality limbs/digits/tail abnormal tail morphology (J:68721) when is Igf2r^tm2Wag inherited paternally and T^hp is maternally, mice have a bent tail compared to wild-type mice reproductive system reproductive system phenotype (J:68721) when the allele is inherited paternally, mice are fertile
Genotype	Allelic Composition	Genetic Background
cx4	Map3k4^byg/Map3k4⁺ T^hp/T⁺	involves: AKR/J * C3H/HeH * C57BL/6J
reproductive system abnormal testis cord formation (J:153050) testes exhibit regions lacking clear cord morphology unlike in wild-type mice primary sex reversal (J:153050) at E13.5 and E14.5, XY gonads exhibit disruption in cord morphology or gonadal sex reversal nervous system abnormal neural tube morphology/development (J:153050) endocrine/exocrine glands abnormal testis cord formation (J:153050) testes exhibit regions lacking clear cord morphology unlike in wild-type mice embryogenesis abnormal neural tube morphology/development (J:153050)

Notes

Because this allele arose in the AKR/J inbred strain and can only be transmitted to viable offspring via a male carrier, all T strains carry the AKR Y chromosome.

References

Original:	J:85320 Griffen AB et al., "Hairpin tail" Mouse News Lett 1965;32():43-44
All:	20 reference(s)

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