Pax1^un-i
Spontaneous Allele Detail

Summary

• Symbol: Pax1^un-i
• Name: paired box 1; undulated intermediate
• MGI ID: MGI:3603176
• Synonyms: Pax1^sco, sco, scoliosis
• Gene: Pax1 Location: Chr2:147203850-147216972 bp, + strand Genetic Position: Chr2, 72.63 cM
• Alliance: Pax1^un-i page

Mutation origin

• Strain of Origin: (129X1/SvJ x 129S1/Sv)F1-Kitl⁺

Mutation description

• Allele Type: Spontaneous
• Mutation: Intragenic deletion
• Mutation details: Analysis revealed 2.0 and 4.5-kb deletion regions that mapped to nt 2636 to 640 and -272 to 4271 of the Pax1 gene. Northern blot using a probe against exons 1-4 and part of 5 failed to detect transcript in thymus samples. RT-PCR further confirmed inactivation of the gene. (J:100951)
• Inheritance: Recessive

Expression

In Structures Affected by this Mutation:

17 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any Pax1 Mutation: 28 strains or lines available

References

• Original: J:100951 Adham IM, et al., The scoliosis (sco) mouse: a new allele of Pax1. Cytogenet Genome Res. 2005;111(1):16-26
• All: 1 reference(s)