T<c> Radiation induced Allele Detail MGI Mouse (MGI:1856185)

T^c
Radiation induced Allele Detail

Nomenclature

Symbol:	T^c
Name:	brachyury; curtailed
MGI ID:	MGI:1856185
Gene:	T Location: Chr17:8627288-8635361 bp, + strand Genetic Position: Chr17, 4.02 cM

Mutation
origin

Strain of Origin:

Not Specified

Mutation
description

Allele Type:	Radiation induced
Mutation:	Single point mutation
	Southern analysis of genomic DNA showed that this allele does not comprise a deletion of flanking loci, D17Leh119II and D17RP17, as found for alleles T^hp and T^Orl. Sequencing genomic DNA from the open reading frame revealed a G to A transition that would result in a protein truncated at the carboxyl-terminal end. (J:85398)
Inheritance:	Semidominant

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 T Mutation:	45 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	ht4	cx5	cx6	cx7	tg8	tg9	tg10
behavior/neurological						√	√
hindlimb paralysis						√	√
		hm1	hm2	ht3	ht4	cx5	cx6	cx7	tg8	tg9	tg10
cardiovascular system			√
distended pericardium			√
		hm1	hm2	ht3	ht4	cx5	cx6	cx7	tg8	tg9	tg10
digestive/alimentary system						√
abnormal colon morphology						√
		hm1	hm2	ht3	ht4	cx5	cx6	cx7	tg8	tg9	tg10
embryogenesis		√	√	√		√	√
abnormal rostral-caudal axis patterning		√
caudal body truncation			√
abnormal limb bud morphology		√
abnormal neural tube morphology/development		√		√
kinked neural tube			√
spina bifida						√
spina bifida occulta				√			√
abnormal roof plate morphology						√
abnormal somite development		√
absent somites			√
abnormal allantois morphology			√
abnormal notochord morphology						√
split notochord				√		√
		hm1	hm2	ht3	ht4	cx5	cx6	cx7	tg8	tg9	tg10
lethality/postnatal					√	√	√
postnatal lethality					√	√	√
		hm1	hm2	ht3	ht4	cx5	cx6	cx7	tg8	tg9	tg10
lethality/prenatal-perinatal		√	√		√			√
embryonic lethality during organogenesis		√	√					√
neonatal lethality					√
		hm1	hm2	ht3	ht4	cx5	cx6	cx7	tg8	tg9	tg10
limbs/digits/tail		√		√	√				√	√	√
abnormal limb bud morphology		√
abnormal tail bud morphology		√		√
abnormal tail morphology					√					√	√
absent tail					√
short tail					√				√
		hm1	hm2	ht3	ht4	cx5	cx6	cx7	tg8	tg9	tg10
nervous system		√	√	√		√	√
abnormal neural tube morphology/development		√		√
kinked neural tube			√
spina bifida						√
spina bifida occulta				√			√
abnormal roof plate morphology						√
abnormal neural fold formation			√
abnormal spinal cord morphology				√		√
		hm1	hm2	ht3	ht4	cx5	cx6	cx7	tg8	tg9	tg10
renal/urinary system						√
distended urinary bladder						√
		hm1	hm2	ht3	ht4	cx5	cx6	cx7	tg8	tg9	tg10
skeleton				√	√	√	√
absent vertebrae				√
rib fusion					√
short ribs					√
abnormal nucleus pulposus morphology					√
abnormal cervical vertebrae morphology					√
abnormal cervical atlas morphology					√
abnormal odontoid process					√
cervical vertebral fusion					√
decreased presacral vertebrae number					√
abnormal vertebral arch development					√
spina bifida occulta				√			√
vertebral fusion					√
thoracic vertebral fusion					√
fusion of vertebral arches					√
abnormal bone ossification					√
abnormal vertebral body morphology						√
abnormal vertebral body development						√

Phenotypic
data by
genotype

Phenotypic Data by Genotype

(show or hide all phenotypic details)

Genotype	Allelic Composition	Genetic Background
hm1	T^c/T^c	mixed
lethality/prenatal-perinatal embryonic lethality during organogenesis (J:106412) embryos die around E10-11 due to failure of establishment of placental connections embryogenesis abnormal rostral-caudal axis patterning (J:106412) posterior portion of the body is severely reduced abnormal limb bud morphology (J:106412) abnormal neural tube morphology/development (J:106412) neural tube bulges anteriorly and is uneven in width with larger than normal spaces between cells abnormal somite development (J:106412) embryos lack externally visible somites nervous system abnormal neural tube morphology/development (J:106412) neural tube bulges anteriorly and is uneven in width with larger than normal spaces between cells limbs/digits/tail abnormal limb bud morphology (J:106412) abnormal tail bud morphology (J:106412) tail bud is absent
Genotype	Allelic Composition	Genetic Background
hm2	T^c/T^c	Not Specified
lethality/prenatal-perinatal embryonic lethality during organogenesis (J:5003) between embryonic day 9 and 11, 31% of embryos from intercrosses of heterozygotes are dead or malformed and the abnormalities are more extreme than in T homozygotes embryogenesis caudal body truncation (J:5003) at embryonic day 10 to 11 the posterior part of the body, including hind-limb buds and tail have failed to develop kinked neural tube (J:5003) absent somites (J:5003) at embryonic day 10 to 11 externally visible somites are absent abnormal allantois morphology (J:5003) at embryonic day 10 to 11 the normal allantoic outgrowth is lacking nervous system kinked neural tube (J:5003) abnormal neural fold formation (J:5003) at embryonic day 10 to 11 the nerual folds remain open in the trunk region and there are kinks in the spinal cord on each side of the open neural folds cardiovascular system distended pericardium (J:5003) at embryonic day 10 to 11 the pericardium is distended
Genotype	Allelic Composition	Genetic Background
ht3	T^c/T⁺	mixed
limbs/digits/tail abnormal tail bud morphology (J:106412) by E 12, mutants show constriction at the base of the tail later in development, the abnormalities observed are less severe and occur more posteriorly than in T^c/t^w5 embryos nervous system abnormal neural tube morphology/development (J:106412) at E12.5, one accessory neural tube is observed spina bifida occulta (J:106412) unlike T/t<25> mutants, the dermis over the bony defect of the spinal cord does not become attenuated and rupture abnormal spinal cord morphology (J:106412) embryos display ventral duplication of the spinal cord embryogenesis abnormal neural tube morphology/development (J:106412) at E12.5, one accessory neural tube is observed spina bifida occulta (J:106412) unlike T/t<25> mutants, the dermis over the bony defect of the spinal cord does not become attenuated and rupture split notochord (J:106412) some embryos show duplication or intermittent absence of the notochord skeleton spina bifida occulta (J:106412) unlike T/t<25> mutants, the dermis over the bony defect of the spinal cord does not become attenuated and rupture absent vertebrae (J:106412) embryos display partial or complete absence of bony vertebrae posterior to midliver level
Genotype	Allelic Composition	Genetic Background
ht4	T^c/T⁺	Not Specified
limbs/digits/tail abnormal tail morphology (J:64262, J:5003) tail is reduced to a very short curly filament without skeleton and in some instances the tail is altogether absent (J:64262) while approximately 5% of heterozygotes have a short tail not more than 20% normal length, most have no normal tail but a short boneless caudal filament (J:5003) absent tail (J:64262, J:5003) short tail (J:64262, J:5003) skeleton rib fusion (J:5003) often extensive in the thoracic region short ribs (J:5003) abnormal nucleus pulposus morphology (J:5003) aside from slight traces in the lower thoracic and lumbar regions, the intervertebral nuclei pulposi are absent at 3 weeks of age abnormal cervical vertebrae morphology (J:5003) abnormal cervical atlas morphology (J:5003) the neural arch is partially double in some heterozygotes abnormal odontoid process (J:5003) the axis odontoid process is absent resulting in a horseshoe-shaped articulation between the atlas and axis cervical vertebral fusion (J:5003) between the second and third vertebrae decreased presacral vertebrae number (J:5003) abnormal vertebral arch development (J:5003) vertebral fusion (J:5003) thoracic vertebral fusion (J:5003) fusion of vertebral arches (J:5003) abnormal bone ossification (J:5003) the centra of cervical vertebrae are wider than normal, the axis tends to ossify from twin centers, and distortion and fusion is found in some throacic centra lethality/prenatal-perinatal neonatal lethality (J:5003) ratio of mutant to wild-type is less than 1 to 1 at birth lethality/postnatal postnatal lethality (J:5003) 32% of curtailed mice die between birth and weaning
Genotype	Allelic Composition	Genetic Background
cx5	T^c/T^c t^w5/t^w5	mixed
lethality/postnatal postnatal lethality (J:106412) all embryos survive past birth, but most die within two weeks embryogenesis spina bifida (J:106412) embryos have lumbosacral spina bifida with meningocele abnormal roof plate morphology (J:106412) roof plate is attenuated and necrotic starting at E13.5; at E17.5 it is ruptured so that the central canal is continuous with the CSF space; blood vessels adjacent to the neural tube rupture resulting in hemorrhage into the CSF space abnormal notochord morphology (J:106412) notochord is flattened out against the neural tube as it approaches the hind limb level split notochord (J:106412) ome embryos show duplication or intermittent absence of the notochord nervous system spina bifida (J:106412) embryos have lumbosacral spina bifida with meningocele abnormal roof plate morphology (J:106412) roof plate is attenuated and necrotic starting at E13.5; at E17.5 it is ruptured so that the central canal is continuous with the CSF space; blood vessels adjacent to the neural tube rupture resulting in hemorrhage into the CSF space abnormal spinal cord morphology (J:106412) from E13.5, an externally visible dorsal blister which is cystic and fluid-containing is present in the lumbosacral area of the embryo as development continues and accessory neural tube disappear including the posterior one which merges with the spinal cord, the spinal cord is disfigured and the original spinal canal is shifted dorsally at the posterior end, the spinal cord spreads out and is intermingled with connective tissue, muscle fibers and immature neural tissue behavior/neurological hindlimb paralysis (J:106412) at birth, almost all pups display various degrees of hindlimb paralysis skeleton abnormal vertebral body morphology (J:106412) at E13. precartilaginous vertebral bodies just anterior to the level where accessory cords start forming have a midline furrow such that posteriorly the vertebral body is divided bilaterally in later embryos, bilateral ossification centers are observed anterior to the level where the vertebral body defects appear; posteriorly there is no trace of vertebral body formation abnormal vertebral body development (J:106412) at the level of accessory cord formation, neural arch development is disturbed, causing midline defects renal/urinary system distended urinary bladder (J:106412) pups frequently show distended bladders at birth digestive/alimentary system abnormal colon morphology (J:106412) at autopsy, all mice are found to have a ruptured or very distended colon
Genotype	Allelic Composition	Genetic Background
cx6	T^c/t^h7	Not Specified
behavior/neurological hindlimb paralysis (J:5003) lethality/postnatal postnatal lethality (J:5003) over 80% die by 14 days of age nervous system spina bifida occulta (J:5003) approximately 30% have dorsal red scars or blood-blisters at birth and some of these hace paralysed hind-limbs skeleton spina bifida occulta (J:5003) approximately 30% have dorsal red scars or blood-blisters at birth and some of these hace paralysed hind-limbs embryogenesis spina bifida occulta (J:5003) approximately 30% have dorsal red scars or blood-blisters at birth and some of these hace paralysed hind-limbs
Genotype	Allelic Composition	Genetic Background
cx7	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
tg8	T^c/T⁺ Tg(T)118.9Bgh/0	involves: C57BL/6 * CBA
limbs/digits/tail short tail (J:3956) most transgene carriers have a short tail, a partial rescue of the curtailed phenotype, and the tail length varies from one-eighth to three-fourths normal tail length
Genotype	Allelic Composition	Genetic Background
tg9	T^c/T⁺ Tg(T)118.9Bgh/Tg(T)118.9Bgh	involves: C57BL/6 * CBA
limbs/digits/tail abnormal tail morphology (J:3956) most curtailed heterozygotes homozygous for this transgene have normal length tails with blunted ends, but a minority have short tails
Genotype	Allelic Composition	Genetic Background
tg10	T^c/T⁺ t⁺/t^h51 Tg(T)118.9Bgh/0	involves: C57BL/6 * CBA
limbs/digits/tail abnormal tail morphology (J:3956) six of seven found to have short tails with the seventh having no tail; this is a partial rescue of the compound heterozygous phenotype in the absence of the transgene wherein sevin out of sevin have a tailless phenotype

Notes

T^c, curtailed, semidominant. Found among offspring of an irradiated (C3H/He x 101/H)F1 male mated to females of a multiple recessive stock. Heterozygotes have complete or near-complete absence of the tail, absence of the odontoid process of the axis, absence of the nucleus pulposi of the intervertebral discs, a tendency for rib and vertebral fusions, and a slight decrease in average number of presacral vertebrae. They occasionally show paralysis of the hindlimbs and atresia ani. Homozygotes die at the same time as T/T embryos and are similar to them but more severely affected. T^c/T embryos are variable and intermediate between T/T and T ^c/T ^c (J:5003).

References

Original:	J:64262 Searle AG, "T<c> - curtailed" Mouse News Lett 1960;22():29
All:	10 reference(s)

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