Strain Information | |
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Image | |
BRC No. | RBRC06319 |
Type | Chemically-induced Mutation Congenic |
Species | Mus musculus |
Strain name | B6.BTBR-Pah<enu2> |
Former Common name | B6-Pah/enu2 |
H-2 Haplotype | |
ES Cell line | |
Background strain | C57BL/6JJcl |
Appearance | |
Strain development | Developed 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 description | Pah (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 maintenance | Heterozygote x Wild-type [C57BL/6JJcl] |
References | Neuroreport, 23, 30-34 (2012). 22107842 Genetics, 134, 1205-1210 (1993). 8375656 Genomics, 39, 402-405 (1997). 9119379 |
Health Report | |
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Examination Date / Room / Rack |
Gene | |
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Gene info | Gene symbolGene nameChr.Allele symbolAllele nameCommon namesPromoter |
Ordering Information | |
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Donor DNA | |
Research application | Metabolism Research Mouse Models for Human Disease |
Specific Term and Conditions | In 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). |
Depositor | Akihiro Kume (Jichi Medical University) |
Strain Status | Frozen embryos Frozen sperm |
Strain Availability | Recovered litters from cryopreserved embryos (2 to 4 months) Cryopreserved sperm (within 1 month) |
Additional Info. | Necessary documents for ordering:
Genotyping protocol -PCR- |
BRC mice in Publications |
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No Data |