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

Symbol: Pcbd1tm1Grc Name: pterin 4 alpha carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha (TCF1) 1; targeted mutation 1, Gerald R Crabtree MGI ID: MGI:2384425 Synonyms: DCoH- Gene: Pcbd1  Location: Chr10:60925110-60930103 bp, + strand  Genetic Position: Chr10, 32.14 cM Alliance: Pcbd1tm1Grc page

Pcbd1tm1Grc/Pcbd1tm1Grc mice develop cataracts Show the 1 phenotype image(s) involving this allele.

Germline Transmission:	Earliest citation of germline transmission: J:78257
Parent Cell Line:	R1 (ES Cell)
Strain of Origin:	(129X1/SvJ x 129S1/Sv)F1-Kitl+

Allele Type:    Targeted (Null/knockout) Mutations:    Insertion, Intragenic deletion   Mutation details: A neomycin selection cassette replaced exons 2, 3, and 4. The deleted region encoded all but one amino acid of the protein. While transcript was undetected in homozygous mutant mice by Norhtern blot analysis, Western blot analysis showed the low levels of protein in the kidney, liver, and eye. (J:78257)

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

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 Pcbd1 Mutation:	5 strains or lines available

Original:	J:78257 Bayle JH, et al., Hyperphenylalaninemia and impaired glucose tolerance in mice lacking the bifunctional DCoH gene. J Biol Chem. 2002 Aug 9;277(32):28884-91
All:	1 reference(s)