Phenotypes associated with this allele

• Allele Symbol: Pofut1^cax
• Allele Name: compact axial skeleton
• Allele ID: MGI:3719000
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Pofut1^cax/Pofut1^cax	C3H/HeJ-Pofut1^cax/J	MGI:3835596
hm2	Pofut1^cax/Pofut1^cax	involves: C57BL/6J * CAST/Ei	MGI:3835597
ht3	Pofut1^tm1Pst/Pofut1^cax	involves: 129/Sv * C57BL/6J * SJL/J	MGI:3835813

Genotype
MGI:3835596

hm1

• Allelic Composition: Pofut1^cax/Pofut1^cax
• Genetic Background: C3H/HeJ-Pofut1^cax/J

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

Axial skeleton and somite abnormalities in Pofut1^cax/Pofut1^cax mice

limbs/digits/tail

short tail ( J:145608 )

• severe shortening of the tail

kinked tail ( J:145608 )

growth/size/body

decreased body length ( J:145608 )

• Background Sensitivity: severe shortening of the body axis

skeleton

rib fusion ( J:145608 )

abnormal vertebral column morphology ( J:145608 )

• abnormalities are found along the entire length of the vertebral column and are found even in externally normal homozygotes

absent vertebral spinous process ( J:145608 )

hemivertebra ( J:145608 )

small vertebrae ( J:145608 )

embryo

embryo phenotype ( J:145608 )

N • establishment of right-left asymmetry, angiogenesis and neuronal differentialtion proceed normally

abnormal somite development ( J:145608 )

abnormal dorsal-ventral polarity of the somites ( J:145608 )

• immunohitochemistry at embryonic day 9.5 shows reduced and broadened expression of DLL1 in somites, fuzzy expression domains and disorganized stripes of expression of TBX18 and UNCX4.1

abnormal somite size ( J:145608 )

• in some day 9.5 embryos somite size varies considerably

Genotype
MGI:3835597

hm2

• Allelic Composition: Pofut1^cax/Pofut1^cax
• Genetic Background: involves: C57BL/6J * CAST/Ei

Axial skeleton and somite abnormalities in Pofut1^cax/Pofut1^cax mice

limbs/digits/tail

short tail ( J:145608 )

• Background Sensitivity: on this mixed genetic background tail length varies from nearly normal to almost complete absence of the tail

kinked tail ( J:145608 )

• Background Sensitivity: on this mixed background homozygotes can have a normal or kinked tail

growth/size/body

decreased body length ( J:145608 )

• Background Sensitivity: on this mixed genetic background decreased body length shows variable expressivity ranging from almost normal body length to noticably shortened body axis

skeleton

abnormal vertebral column morphology ( J:145608 )

• Background Sensitivity: even externally normal homozygotes will have malformations of the vertebral column, with varying severity on this mixed genetic background

Genotype
MGI:3835813

ht3

• Allelic Composition: Pofut1^tm1Pst/Pofut1^cax
• Genetic Background: involves: 129/Sv * C57BL/6J * SJL/J

embryo

abnormal dorsal-ventral polarity of the somites ( J:145608 )

• the disruption of the anterior-posterior somite patterning in compound heterozygotes is more severed in cax homozygotes such that at embryonic day 9.5 the somitic DLL1 stripes are essentially lost, TBX18 expression domains are fuzzy and expanded, and UNCX4.1 expression stripes are irregular and scrambled