Phox2b^tm2.1Heno
Targeted Allele Detail

Summary

• Symbol: Phox2b^tm2.1Heno
• Name: paired-like homeobox 2b; targeted mutation 2.1, Hideki Enomoto
• MGI ID: MGI:5451082
• Synonyms: Phox2b^del8
• Gene: Phox2b Location: Chr5:67251751-67256399 bp, - strand Genetic Position: Chr5, 35.95 cM
• Alliance: Phox2b^tm2.1Heno page

Neurocristopathy in Phox2b^tm1.1Heno/Phox2b⁺ and Phox2b^tm2.1Heno/Phox2b⁺ mice

Show the 3 phenotype image(s) involving this allele.

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:190742
• Parent Cell Line: EB3/5 (ES Cell)
• Strain of Origin: 129P2/OlaHsd

Mutation description

Allele Type: Targeted (Humanized sequence) Mutations: Insertion, Nucleotide substitutions Mutation details: Exon 3 was replaced with a modified exon 3 in which nucleotides 693-700 were deleted (693-700 del8), mimicking a deletion found in some human autonomic neurocristopathies. Cre-mediated recombination removed the floxed neo cassette inserted downstream of exon 3. (J:190742)

Generation of the Phox2b^tm1.1Heno and Phox2b^tm2.1Heno alleles

Expression

In Structures Affected by this Mutation:

2 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 Phox2b Mutation: 25 strains or lines available

Notes

ES cell line EB3/5, derived from E14TG2a, carries one allele of Pou5f1 that has been inactivated via targeted integration of E14TG2a ES cells with an IRESBSDpA selection cassette. J:190742 does not mention whether the null allele of Pou5f1 is also present in the line of mice created.

References

• Original: J:190742 Nagashimada M, et al., Autonomic neurocristopathy-associated mutations in PHOX2B dysregulate Sox10 expression. J Clin Invest. 2012 Sep 4;122(9):3145-58
• All: 2 reference(s)