Phenotypes associated with this allele

• Allele Symbol: Noto^tc
• Allele Name: truncate
• Allele ID: MGI:1857063
• Summary: 4 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Noto^tc/Noto^tc	involves: C57BL/6 * Swiss albino stock	MGI:3054257
hm2	Noto^tc/Noto^tc	involves: Swiss albino stock	MGI:3054256
hm3	Noto^tc/Noto^tc	STOCK Noto^tc/J	MGI:3054258
ht4	Noto^tc/Noto^tm1Gos	involves: 129S1/SvImJ * STOCK-Noto^tc/J	MGI:3054259

Genotype
MGI:3054257

hm1

• Allelic Composition: Noto^tc/Noto^tc
• Genetic Background: involves: C57BL/6 * Swiss albino stock

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

mortality/aging

premature death ( J:12146 )

• defects in the lumbo-sacral region can result in a narrowed pelvis and thus obstructed labor in about 10% of homozytgotes

postnatal lethality ( J:12146 )

• reduced postnatal survival may be seen as a result of damage to the spinal cord

behavior/neurological

hindlimb paralysis ( J:12146 )

• hindlimb paralysis is seen in 5-10% of mutants probably as a result of a defect in the vertebral column resulting in compression of the spinal cord

cardiovascular system

abnormal blood vessel morphology ( J:12146 )

• vessels in the tail are enlarged and a blood filled bleb can be found at the end of the tail derived from dilated blood vessels by the dissolution of the endothelial lining

embryo

abnormal floor plate morphology ( J:12146 )

• in the area lacking the notochord the neural tube does not develop the normal thin floor plate but instead maintains a uniform thickness throughout the ventral wall

• abnormal floor plate morphology is confined to those regions where the notochord is absent

• at E13-14 in areas lacking a notochord the basal lamina fuse to form a single, unpaired motor column

truncated notochord ( J:12146 )

• at about E9 failure of the notochord to grow caudally is seen and becomes more noticeable with age

• separate segments of the notochord may develop caudal of the initial truncation

abnormal somite development ( J:12146 )

• beneath the abnormal floor plate the left and right somites fuse across the mid-line

• degeneration of somites is also seen in the tail

limbs/digits/tail

decreased caudal vertebrae number ( J:12146 )

• loss of one or more vertebrae can produce constrictions in the tail

short tail ( J:12146 )

• variable tail length often half the normal length with one or more constrictions along the length of the tail

• the constrictions in the tail contain only connective tissue, blood vessels, and nerve fibers

skeleton

abnormal vertebrae morphology ( J:12146 )

• vertebrae adjacent to missing vertebrae are malformed with reduced growth, irregular contours and processes

decreased caudal vertebrae number ( J:12146 )

• loss of one or more vertebrae can produce constrictions in the tail

decreased lumbar vertebrae number ( J:12146 )

• a cranial shift in the lumbo-sacral border along with fewer lumbar vertebrae (4 instead of 6) is seen in some mutants (5 out of 48)

fusion of vertebral bodies ( J:12146 )

• vertebral bodies are reduced in height and often fused

abnormal sclerotome morphology ( J:12146 )

• degeneration of the sclerotome is seen is areas where the notochord is absent

nervous system

abnormal floor plate morphology ( J:12146 )

• in the area lacking the notochord the neural tube does not develop the normal thin floor plate but instead maintains a uniform thickness throughout the ventral wall

• abnormal floor plate morphology is confined to those regions where the notochord is absent

• at E13-14 in areas lacking a notochord the basal lamina fuse to form a single, unpaired motor column

abnormal dorsal root ganglion morphology ( J:12146 )

• the spinal ganglia are occasionally displaced ventrally and may be fused to each other

Genotype
MGI:3054256

hm2

• Allelic Composition: Noto^tc/Noto^tc
• Genetic Background: involves: Swiss albino stock

limbs/digits/tail

short tail ( J:64444 )

• variable tail length often half the normal length with one or more constrictions along the length of the tail

Genotype
MGI:3054258

hm3

• Allelic Composition: Noto^tc/Noto^tc
• Genetic Background: STOCK Noto^tc/J

mortality/aging

postnatal lethality ( J:91405 )

• reduced postnatal survival may be seen as a result of damage to the spinal cord

behavior/neurological

hindlimb paralysis ( J:91405 )

• hindlimb paralysis is seen in mutants probably as a result of a defect in the vertebral column resulting in compression of the spinal cord

embryo

truncated notochord ( J:16484 , J:91405 , J:100185 )

• at E13.5 mutants gaps in or truncation of the notochord (J:16484)

• the notochord ends in a knoblike swelling (19%), dorsad curve (25%), or a branch (25%) (J:16484)

• premature truncation of the notochord in the caudal or sacral region with or without a discontinuous caudal notochord is seen (J:91405)

limbs/digits/tail

short tail ( J:91405 )

• variable tail length often half the normal length with one or more constrictions along the length of the tail

skeleton

decreased vertebrae number ( J:16484 )

• at E13.5 mutants have fewer than the 53 vertebrae seen in wild-type mice resulting from sudden interruption or premature truncation of the vertebra column

Genotype
MGI:3054259

ht4

• Allelic Composition: Noto^tc/Noto^tm1Gos
• Genetic Background: involves: 129S1/SvImJ * STOCK-Noto^tc/J

embryo

truncated notochord ( J:91405 )

• premature truncation of the notochord in the caudal or sacral region with or without a discontinuous caudal notochord is seen

limbs/digits/tail

short tail ( J:91405 )

• reduced tail length, often half the normal length with one or more constrictions along the length of the tail, is seen with incomplete penetrance

skeleton

decreased vertebrae number ( J:91405 )

• mutants have fewer vertebrae compared to wild-type mice resulting from interruption or premature truncation of the vertebra column