Summary | Mutation origin | Mutation description | Expression | Phenotypes | Disease models | Find Mice (IMSR) | References

Symbol: Papss2bm 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: Papss2bm page

Abnormal skeletal development of Papss2bm/Papss2bm (right) mice at P0, P10 and P3 Show the 1 phenotype image(s) involving this allele.

Strain of Origin:

LDJ/Le-Grem1ld-J + a/ + Atrnmg a

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

View phenotypes and curated references for all genotypes (concatenated display).

In Structures Affected by this Mutation:

8 anatomical structure(s)

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

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)