|Institutional Source||Beutler Lab|
|Gene Name||hemoglobin, beta adult t chain|
|Is this an essential gene?||Not available|
|Stock #||R1720 (G1)|
|Chromosomal Location||103812524-103813996 bp(-) (GRCm38)|
|Type of Mutation||start gained|
|DNA Base Change (assembly)||T to A at 103813876 bp|
|Amino Acid Change|
|Ref Sequence||ENSEMBL: ENSMUSP00000095794 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000098192]|
|Predicted Effect||probably benign
|Coding Region Coverage||
|MGI Phenotype||FUNCTION: This gene encodes a beta polypeptide chain found in adult hemoglobin, which consists of a tetramer of two alpha chains and two beta chains, and which functions in the transport of oxygen to various peripheral tissues. This gene is one of a cluster of beta-hemoglobin genes that are distally regulated by a locus control region, and which are organized along the chromosome in the order of their developmental expression. In mouse, two major strain-specific haplotypes of the beta-globin gene cluster are found - a "single" haplotype found in C57BL/-type strains, which includes two highly similar adult beta-globin genes, beta s and beta t, and a "diffuse" haplotype found in strains such as BALB/c and 129Sv, which includes two somewhat diverse adult beta-globin genes, beta-major and beta-minor. This gene represents the beta t adult gene found in the "single" haplotype. Primary chromosome 7 of the mouse reference genome assembly, which is derived from C57BL/6 strain mice, represents the "single" haplotype, while the "diffuse" haplotype is represented in the reference genome collection by the BALB/c strain alternate contig, NT_095534.1. [provided by RefSeq, May 2013]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Hbb-bt||
(F):5'- TCCAAAGCTATCAAAGTACCGCTGG -3'
(R):5'- GGTTGTCATCTCTGAAGCCTCACC -3'
(F):5'- GACACTCAAAGTTAGTGCCTG -3'
(R):5'- TAAAGCTGAGCAGGGTCAGT -3'