Papss2^bm
Spontaneous Allele Detail

Summary

• Symbol: Papss2^bm
• Name: 3'-phosphoadenosine 5'-phosphosulfate synthase 2; brachymorphic
• MGI ID: MGI:1856688
• Synonyms: bm
• Gene: Papss2 Location: Chr19:32573190-32644587 bp, + strand Genetic Position: Chr19, 27.46 cM
• Alliance: Papss2^bm page

Abnormal skeletal development of Papss2^bm/Papss2^bm (right) mice at P0, P10 and P3

Show the 1 phenotype image(s) involving this allele.

Mutation origin

• Strain of Origin: LDJ/Le-Grem1^ld-J + a/ + Atrn^mg a

Mutation description

• Allele Type: Spontaneous
• Mutation: Nucleotide substitutions
• Mutation details: A point mutation resulting in a glycine to arginine substitution at the highly conserved codon 79 is predicted to be responsible for the mutant phenotype seen in the brachymorphic mouse. (J:49338, J:50114)
• Inheritance: Recessive

Disease models

Expression

In Structures Affected by this Mutation:

8 anatomical structure(s)

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 Papss2 Mutation: 33 strains or lines available

References

• Original: J:5109 Lane PW, et al., Three recessive mutations producing disproportionate dwarfing in mice: achondroplasia, brachymorphic, and stubby. J Hered. 1968 Sep-Oct;59(5):300-8
• All: 24 reference(s)