RBRC06319

Information1

Image
BRC No.RBRC06319
TypeChemically-induced Mutation Congenic
SpeciesMus musculus
Strain nameB6.BTBR-Pah<enu2>
Former Common nameB6-Pah/enu2
H-2 Haplotype
ES Cell line
Background strainC57BL/6JJcl
Appearance
Strain developmentDeveloped by Akihiro Kume, Jichi Medical University. The original ENU mutant mice BTBR background were generated by Alexandra Shedlovsky and David McDonald, University of Wisconsin. The mutant mice were backcrossed to C57BL/6 over 26 times.
Strain descriptionPah (phenylalanine hydroxylase) gene ENU mutant mice. A point mutation (T835C) in exon 7 of the Pah introduced an amino acid substitution Phe263Ser. Homozygous mutant mice exhibit hyperphenylalaninemia on a normal diet. Model for Phenylketonuria (OMIM: 261600).
Colony maintenanceHeterozygote x Wild-type [C57BL/6JJcl]
ReferencesNeuroreport, 23, 30-34 (2012). 22107842
Genetics, 134, 1205-1210 (1993). 8375656
Genomics, 39, 402-405 (1997). 9119379

Health Report

Examination Date / Room / Rack2020/03/30Room:4-ARack:K
2020/01/27Room:4-ARack:K

Gene

Gene info
Gene symbolGene nameChr.Allele symbolAllele namePromoter
Pahphenylalanine hydroxylase10Pah<enu2>phenylalanine hydroxylase enu 2

Information2

Donor DNA
Research applicationMetabolism Research
Specific Term and ConditionsIn publishing the research results obtained by use of the BIOLOGICAL RESOURCE, a citation of the following literature(s) designated by the DEPOSITOR is requested. Neuroreport, 23, 30-34 (2012).
DepositorAkihiro Kume (Jichi Medical University)
Strain Statusan icon for Live miceLive mice
an icon for Frozen spermFrozen sperm
Strain AvailabilityRecovery and QC required prior to distribution
Cryopreserved sperm (within 1 month)
Additional Info.Genotyping protocol -PCR-

BRC mice in Publications

No Data