Ascl1 MGI Mouse Gene Detail - MGI:96919 - achaete-scute family bHLH transcription factor 1

Symbol

Ascl1
Name

achaete-scute family bHLH transcription factor 1
Synonyms

ASH1, bHLHa46, Mash1

Feature Type

protein coding gene
IDs

MGI:96919
NCBI Gene: 17172
Alliance

gene page
Transcription Start Sites

6 TSS

Sequence Map

Chr10:87326681-87329522 bp, - strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 10, 43.64 cM
Mapping Data

1 experiment

SNPs within 2kb

99 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_96919	protein coding gene	Chr10:87326681-87329522 (-)
129S1/SvImJ	MGP_129S1SvImJ_G0017618	protein coding gene	Chr10:88513938-88516779 (-)
A/J	MGP_AJ_G0017597	protein coding gene	Chr10:85557588-85560431 (-)
AKR/J	MGP_AKRJ_G0017555	protein coding gene	Chr10:87969339-87972182 (-)
BALB/cJ	MGP_BALBcJ_G0017560	protein coding gene	Chr10:85828092-85830935 (-)
C3H/HeJ	MGP_C3HHeJ_G0017383	protein coding gene	Chr10:87962284-87965127 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0018017	protein coding gene	Chr10:91499229-91502070 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0015699	protein coding gene	Chr10:81334608-81337472 (-)
CAST/EiJ	MGP_CASTEiJ_G0016948	protein coding gene	Chr10:87851663-87854621 (-)
CBA/J	MGP_CBAJ_G0017352	protein coding gene	Chr10:95278826-95281669 (-)
DBA/2J	MGP_DBA2J_G0017458	protein coding gene	Chr10:84673629-84676472 (-)
FVB/NJ	MGP_FVBNJ_G0017450	protein coding gene	Chr10:83909003-83911867 (-)
LP/J	MGP_LPJ_G0017532	protein coding gene	Chr10:89198905-89201746 (-)
NOD/ShiLtJ	MGP_NODShiLtJ_G0017481	protein coding gene	Chr10:96813900-96816743 (-)
NZO/HlLtJ	MGP_NZOHlLtJ_G0018054	protein coding gene	Chr10:87807289-87810133 (-)
PWK/PhJ	MGP_PWKPhJ_G0016729	protein coding gene	Chr10:84672750-84675718 (-)
SPRET/EiJ	MGP_SPRETEiJ_G0016517	protein coding gene	Chr10:86523401-86526275 (-)
WSB/EiJ	MGP_WSBEiJ_G0017007	protein coding gene	Chr10:87773092-87775936 (-)

Human Ortholog

ASCL1, achaete-scute family bHLH transcription factor 1

Vertebrate Orthologs

4

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

ASCL1, achaete-scute family bHLH transcription factor 1
Synonyms

ASH1, bHLHa46, HASH1, MASH1
Links

HGNC:738

NCBI Gene ID: 429

neXtProt AC: NX_P50553

UniProt: P50553
Chr Location

12q23.2; chr12:102957674-102960513 (+) GRCh38

MGI Vertebrate Homology

Ascl1 stringent orthology
1 human;1 mouse;1 rat;2 zebrafish
HCOP

vertebrate homology predictions: ASCL1
Gene Tree

Ascl1

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Phenotype Summary

30 phenotypes from 4 alleles in 7 genetic backgrounds
35 phenotypes from multigenic genotypes
230 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

19
Chemically induced (other)

1
Endonuclease-mediated

5
Targeted

10
Transgenic

3
Genomic Mutations

1 involving Ascl1
Find Mice (IMSR)

28 strains or lines available
Comparison Matrix

Gene Expression + Phenotype
Recombinase Activity

Comparison Matrix Gene Expression + Recombinase Activity

Homozygous null mutants show impaired development of olfactory, sympathetic, parasympathetic, and enteric ganglia, lung neuroendocrine and adrenal chromaffin cells, and various brain centers, and die at birth with feeding and breathing problems.

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All GO Annotations

125
GO References

49

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	RNA binding	signaling receptor activity	signaling receptor binding	transcription	transferase	transporter

Biological Process

carbohydrate derivative metabolism	cell differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	membraneless organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

1781
Tissues

451
cDNA Data

43
Literature Summary

607

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GENSAT

GEO

Expression Atlas
Other Vertebrate Links

Xenbase ascl1

ZFIN ascl1a, ascl1b

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All Sequences

37
RefSeq

2
UniProt

2
CCDS

CCDS24101.1

Ensembl

ENSMUSG00000020052 (Evidence)
NCBI Gene

17172

			Length	Strain/Species	Flank
genomic	17172	NCBI Gene Model \| MGI Sequence Detail	2842	C57BL/6J	± kb
transcript	NM_008553	RefSeq \| MGI Sequence Detail	2490	C57BL/6
polypeptide	Q02067	UniProt \| EBI \| MGI Sequence Detail	231	Not Applicable

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UniProt

2 Sequences
Protein Ontology

PR:000004362 achaete-scute homolog 1

(term hierarchy)
InterPro Domains

IPR050283 E-box Binding Transcriptional Regulators

IPR036638 Helix-loop-helix DNA-binding domain superfamily

IPR011598 Myc-type, basic helix-loop-helix (bHLH) domain

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All nucleic 104

Genomic 2

cDNA 58

Primer pair 9

Other 35

Microarray probesets 4

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MGD-MRK-12119, MGI:2143541

Summaries

All 814

Developmental Gene Expression 607

Gene Ontology 49

Phenotypes 230
Earliest

J:137335 Roderick TH, Chromosomal inversions in studies of mammalian mutagenesis. Genetics. 1979 May;92(1 Pt 1 Suppl):s121-6
Latest

J:358968 Kennedy WM, et al., T-Type Ca(2+) Channels Mediate a Critical Period of Plasticity in Adult-Born Granule Cells. J Neurosci. 2024 Apr 10;44(15)

TSS for Ascl1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr98810	Chr10:87329513-87329528 (-)	1 bp
Tssr98809	Chr10:87328658-87328696 (-)	845 bp
Tssr98808	Chr10:87328621-87328633 (-)	895 bp
Tssr98807	Chr10:87328344-87328355 (-)	1,172 bp
Tssr98806	Chr10:87327725-87327736 (-)	1,791 bp
Tssr98805	Chr10:87327321-87327348 (-)	2,187 bp

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 12/10/2024 MGI 6.24