T Spontaneous Allele Detail MGI Mouse (MGI:1856184)

T
Spontaneous Allele Detail

Nomenclature

Symbol:	T
Name:	brachyury
MGI ID:	MGI:1856184
Synonyms:	T1
Gene:	T Location: Chr17:8627288-8635361 bp, + strand Genetic Position: Chr17, 4.02 cM

T/+

Show the 1 image(s) involving this allele.

Mutation
origin

Strain of Origin:

Laboratory stock

Mutation
description

Allele Type:	Spontaneous
Mutation:	Deletion
	Pulsed-field gel electrophoresis revealed an altered restriction fragment size consistent with a deletion of 160-200kb. (J:21263)
Inheritance:	Semidominant

Find Mice (IMSR)

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

Carrying this Mutation:	Mouse Strains: 13 strains available Cell Lines: 0 lines available
Carrying any T Mutation:	45 strains or lines available

Expression

In Mice Carrying this Mutation:

7 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	ht3	cx4	cx5	cx6	tg7
cardiovascular system		√	√
abnormal aorta morphology			√
abnormal heart development			√
abnormal heart tube morphology		√
abnormal looping morphogenesis		√
abnormal pericardium morphology			√
hemorrhage			√
		hm1	hm2	ht3	cx4	cx5	cx6	tg7
craniofacial			√
abnormal head morphology			√
		hm1	hm2	ht3	cx4	cx5	cx6	tg7
embryogenesis			√	√		√
abnormal primitive streak formation			√
caudal body truncation			√
decreased embryo size			√
abnormal limb bud morphology			√
abnormal neural tube morphology/development			√	√
kinked neural tube			√
abnormal somite development			√
abnormal placenta development			√
abnormal notochord morphology				√		√
absent notochord			√
notochord degeneration			√
		hm1	hm2	ht3	cx4	cx5	cx6	tg7
growth/size			√
decreased embryo size			√
		hm1	hm2	ht3	cx4	cx5	cx6	tg7
lethality/prenatal-perinatal			√				√
embryonic lethality during organogenesis			√				√
		hm1	hm2	ht3	cx4	cx5	cx6	tg7
limbs/digits/tail			√	√	√	√		N
limbs/digits/tail phenotype								N
abnormal limb bud morphology			√
short tail			√	√	√
abnormal tail development				√		√
decreased caudal vertebrae number				√	√
		hm1	hm2	ht3	cx4	cx5	cx6	tg7
nervous system			√	√
abnormal nervous system development			√
abnormal neural tube morphology/development			√	√
kinked neural tube			√
		hm1	hm2	ht3	cx4	cx5	cx6	tg7
skeleton				√	√
abnormal vertebrae morphology					√
decreased caudal vertebrae number				√	√
decreased presacral vertebrae number				√
abnormal lumbar vertebrae morphology					√
		hm1	hm2	ht3	cx4	cx5	cx6	tg7
skin/coat/nails			√
bleb			√
abnormal epidermal layer morphology			√

Phenotypic
data by
genotype

Phenotypic Data by Genotype

(show or hide all phenotypic details)

Genotype	Allelic Composition	Genetic Background
hm1	T/T	involves: BTBR
cardiovascular system abnormal heart tube morphology (J:52218) the early heart tube is bilaterally symmetrical, with a distinct grove on both left and right sides, forming a figure-of-eight outline at E8.5 abnormal looping morphogenesis (J:52218) exhibit ventrally displaced ventricular loops and a 50% incidence of inverted heart situs
Genotype	Allelic Composition	Genetic Background
hm2	T/T	Not Specified
lethality/prenatal-perinatal embryonic lethality during organogenesis (J:13018) die around E11 embryogenesis abnormal primitive streak formation (J:11933) backward growth does not occur preventing organization of the posterior axis and emergence of the allantoic placental stalk caudal body truncation (J:13018) posterior region of the body is greatly reduced at E10 decreased embryo size (J:13018, J:11933) structures posterior to the forelimb buds are not formed (J:11933) abnormal limb bud morphology (J:11933, J:13018) posterior limb buds are absent as the posterior region of the body does not develop (J:13018) anterior limb buds are directed dorsad rather than ventrad (J:13018) abnormal neural tube morphology/development (J:11933, J:13018, J:59271) neural tube is slightly irregular at E8.5 and by E9, is markedly irregular in the posterior end; neural tube is more affected in the posterior than anterior end (J:13018) exhibit asymmetry of the neural tube in the mid-region at around E9 (J:13018) neural tube sends out branches with secondary lumina and often the branch becomes larger than the primary neural tube (J:13018) in some embryos, the neural tube lumen is ruptured to the outside and is continuous with the amniotic cavity (J:13018) few cases show fusion between the neural tube and the gut in the posterior region (J:13018) abnormal folding and kinking of the neural folds at E8 that culminates in ectopic tubular epithelial structures lying ventral to the developing endogenous neural folds (J:59271) kinked neural tube (J:59271) absent notochord (J:13018) notochord is absent, except for fragments in early stages notochord degeneration (J:11933) abnormal somite development (J:11933, J:13018) somites appear normal at early stages but at later stages, they are reduced and by E10, somite tissue is almost absent (J:13018) abnormal placenta development (J:11933) results in embryonic death at at E10.75 growth/size decreased embryo size (J:13018, J:11933) structures posterior to the forelimb buds are not formed (J:11933) cardiovascular system abnormal aorta morphology (J:13018) one of the two dorsal arotae is obliterated by a diverticulum from the neural tube abnormal heart development (J:13018) heart development is sometimes retarded abnormal pericardium morphology (J:13018) commonly, the pericardial cavity is enlarged and is often filled with blood at E10 hemorrhage (J:13018) E10 homozygotes contain numerous blood-filled sinuses in the posterior end pericardial cavity is often filled with blood at E10 craniofacial abnormal head morphology (J:13018) in a few cases, the head region, particularly the mouth, is malformed limbs/digits/tail abnormal limb bud morphology (J:11933, J:13018) posterior limb buds are absent as the posterior region of the body does not develop (J:13018) anterior limb buds are directed dorsad rather than ventrad (J:13018) short tail (J:13018) nervous system abnormal nervous system development (J:13018) no regular segmental dorsal ganglia are formed in E10 embryos although ganglion tissue is found abnormal neural tube morphology/development (J:11933, J:13018, J:59271) neural tube is slightly irregular at E8.5 and by E9, is markedly irregular in the posterior end; neural tube is more affected in the posterior than anterior end (J:13018) exhibit asymmetry of the neural tube in the mid-region at around E9 (J:13018) neural tube sends out branches with secondary lumina and often the branch becomes larger than the primary neural tube (J:13018) in some embryos, the neural tube lumen is ruptured to the outside and is continuous with the amniotic cavity (J:13018) few cases show fusion between the neural tube and the gut in the posterior region (J:13018) abnormal folding and kinking of the neural folds at E8 that culminates in ectopic tubular epithelial structures lying ventral to the developing endogenous neural folds (J:59271) kinked neural tube (J:59271) skin/coat/nails bleb (J:13018) embryos exhibit small paired or unpaired blebs or small vesicles on either side of the mid-line at E8.5-9 abnormal epidermal layer morphology (J:13018) exhibit transient blistering of the dorsal epithelium, first seen at the time of the formation of the first few somites but is completely gone by the time the embryo has attained the second flexure
Genotype	Allelic Composition	Genetic Background
ht3	T/T⁺	Not Specified
limbs/digits/tail abnormal tail development (J:15081) the size of the ventral ectodermal ridge of the tail (VER) is reduced to 74% of normal size decreased caudal vertebrae number (J:15081) caudal vertebrae numbers range from 10 to 24, with an average of 21 short tail (J:15081, J:13018) tail is reduced by about 1/3 in most mutants (J:15081) seen by E11 (J:13018) embryogenesis abnormal neural tube morphology/development (J:13018) neural tube is abnormal/misshapen in the ventral part and in cases in which the notochord is abnormal abnormal notochord morphology (J:13018, J:15081) contain a notochord, however it can be retained in the roof of the gut or cloaca for varying distances and for a limited period, it may be slow to separate from the overlying neural plate or neural tube, or it may secondarily become incorporated completely into the neural tube or the tail-gut (J:15081) the notocord has a central lumen in places (J:15081) commonly see branching of the notochord proper; at E10-12.5, branches occur mainly in the region of the cloaca and the proximal parts of the tail (J:15081) skeleton decreased caudal vertebrae number (J:15081) caudal vertebrae numbers range from 10 to 24, with an average of 21 decreased presacral vertebrae number (J:15081) nervous system abnormal neural tube morphology/development (J:13018) neural tube is abnormal/misshapen in the ventral part and in cases in which the notochord is abnormal
Genotype	Allelic Composition	Genetic Background
cx4	Sp5^tm1Rbe/Sp5^tm1Rbe T/T⁺	involves: 129P2/Ola * C57BL/6J
limbs/digits/tail decreased caudal vertebrae number (J:65743) majority of tails are comprised of fewer than 8 vertebrae short tail (J:65743) skeleton abnormal vertebrae morphology (J:65743) decreased caudal vertebrae number (J:65743) majority of tails are comprised of fewer than 8 vertebrae abnormal lumbar vertebrae morphology (J:65743) lumbar vertebrae defect consisting of an imperfect fusion of the two ventral halves of the vertebra, resulting in an abnormal centrum
Genotype	Allelic Composition	Genetic Background
cx5	T/T⁺ t⁶/t⁺	Not Specified
limbs/digits/tail abnormal tail development (J:15081) the size of the ventral ectodermal ridge of the tail (VER) is reduced to 69% of the normal size embryogenesis abnormal notochord morphology (J:15081) the notochord is increased in bulk not only in the distal growth zone (as in T heterozygotes) but in the whole tail, in the cloacal region and even more anteriorly in the lumbar region and has large lumina the notochord is present throughout the length of the tail, however it becomes incorporated into the neural tube throughout the tail and often the cloacal region
Genotype	Allelic Composition	Genetic Background
cx6	T^c/T	Not Specified
lethality/prenatal-perinatal embryonic lethality during organogenesis (J:5003) these compound heterozygotes display the same embryonic abnormalities at embryonic day 9 to 10 as T/T homozygotes
Genotype	Allelic Composition	Genetic Background
tg7	T/T⁺ Tg(T)118.9Bgh/0	involves: C57BL/6 * CBA
limbs/digits/tail limbs/digits/tail phenotype (J:3956) in the presence of T, transgene carriers have normal length tails, indicative of a complete rescue of phenotype

References

Original:	J:14909 Dobrovolskaia-Zavadskaia N, "Sur la mortification spontanee de la queue chez la souris nouveau-nee et sur l'existence d'un caractere (facteur) hereditaire "non-viable"" C R Seances Soc Biol Fil 1927;97():114-16
All:	14 reference(s)

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