FlyBase Allele Report: Dmel\ash1[3M]

General Information

Symbol

Dmel\ash1^3M

Species

D. melanogaster

Name

FlyBase ID

FBal0356964

Feature type

allele

Associated gene

Dmel\ash1

Associated Insertion(s)

Carried in Construct

Key Links

Genomic Maps

JBrowse

Allele class

loss of function allele

Mutagen

CRISPR/Cas9

Nature of the Allele

Allele class

loss of function allele

(Dorafshan et al., 2019)

Mutagen

CRISPR/Cas9

(Dorafshan et al., 2019)

Progenitor genotype

Cytology

Description

81 amino acid deletion causes translation frame shift and introduces four stop codons in the middle of the SET domain.

(Dorafshan et al., 2019)

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

delins

3L:19,593,546..19,593,816 [-]

Inserted_sequence:

AATATAATATGACTGGTAATAATAATAT

Comment:

An 81 amino acid deletion causes a frameshift and early translation termination. The indicated bases are deleted and replaced with AATATAATATGACTGGTAATAATAATAT.

(Dorafshan et al., 2019)

Variant Molecular Consequences

Associated Sequence Data

DDBJ / EMBL / GenBank

DNA sequence

Protein sequence

UniProtKB/Swiss-Prot

UniProtKB/TrEMBL

Expression Data

Reporter Expression

Additional Information

Statement

Reference

Marker for

Reflects expression of

Reporter construct used in assay

Human Disease Associations

Disease Ontology (DO) Annotations

Models Based on Experimental Evidence ( 0 )

Disease

Evidence

References

Modifiers Based on Experimental Evidence ( 0 )

Disease

Interaction

References

Comments on Models/Modifiers Based on Experimental Evidence ( 0 )

Disease-implicated variant(s)

Phenotypic Data

Phenotypic Class

fertile

(Dorafshan et al., 2019)

homeotic | adult stage (with Df(3L)Exel9011), with ash1^{ΔBAH.Ubi-p63E}, ash1^{ΔSET.Ubi-p63E}

(Dorafshan et al., 2019)

homeotic | adult stage (with Df(3L)Exel9011), with ash1^{ΔPHD.Ubi-p63E}

(Dorafshan et al., 2019)

homeotic | adult stage (with Df(3L)Exel9011), with ash1^{ΔPHD.Ubi-p63E}, ash1^{ΔSET.Ubi-p63E}

(Dorafshan et al., 2019)

lethal (with Df(3L)Exel9011)

(Dorafshan et al., 2019)

partially lethal - majority die (with Df(3L)Exel9011), with ash1^{ΔBAH.Ubi-p63E}, ash1^{ΔSET.Ubi-p63E}

(Dorafshan et al., 2019)

partially lethal - majority die (with Df(3L)Exel9011), with ash1^{ΔPHD.Ubi-p63E}

(Dorafshan et al., 2019)

partially lethal - majority die (with Df(3L)Exel9011), with ash1^{ΔPHD.Ubi-p63E}, ash1^{ΔSET.Ubi-p63E}

(Dorafshan et al., 2019)

viable

(Dorafshan et al., 2019)

visible | adult stage (with Df(3L)Exel9011), with ash1^{ΔBAH.Ubi-p63E}, ash1^{ΔSET.Ubi-p63E}

(Dorafshan et al., 2019)

visible | adult stage (with Df(3L)Exel9011), with ash1^{ΔPHD.Ubi-p63E}, ash1^{ΔSET.Ubi-p63E}

(Dorafshan et al., 2019)

Phenotype Manifest In

adult abdomen (with Df(3L)Exel9011), with ash1^{ΔBAH.Ubi-p63E}, ash1^{ΔSET.Ubi-p63E}

(Dorafshan et al., 2019)

adult abdomen (with Df(3L)Exel9011), with ash1^{ΔPHD.Ubi-p63E}

(Dorafshan et al., 2019)

adult abdomen (with Df(3L)Exel9011), with ash1^{ΔPHD.Ubi-p63E}, ash1^{ΔSET.Ubi-p63E}

(Dorafshan et al., 2019)

adult mesothoracic segment (with Df(3L)Exel9011), with ash1^{ΔBAH.Ubi-p63E}, ash1^{ΔSET.Ubi-p63E}

(Dorafshan et al., 2019)

adult mesothoracic segment (with Df(3L)Exel9011), with ash1^{ΔPHD.Ubi-p63E}

(Dorafshan et al., 2019)

adult mesothoracic segment (with Df(3L)Exel9011), with ash1^{ΔPHD.Ubi-p63E}, ash1^{ΔSET.Ubi-p63E}

(Dorafshan et al., 2019)

adult mesothoracic segment | ectopic (with Df(3L)Exel9011), with ash1^{ΔBAH.Ubi-p63E}, ash1^{ΔSET.Ubi-p63E}

(Dorafshan et al., 2019)

adult mesothoracic segment | ectopic (with Df(3L)Exel9011), with ash1^{ΔPHD.Ubi-p63E}

(Dorafshan et al., 2019)

adult mesothoracic segment | ectopic (with Df(3L)Exel9011), with ash1^{ΔPHD.Ubi-p63E}, ash1^{ΔSET.Ubi-p63E}

(Dorafshan et al., 2019)

haltere (with Df(3L)Exel9011), with ash1^{ΔBAH.Ubi-p63E}, ash1^{ΔSET.Ubi-p63E}

(Dorafshan et al., 2019)

haltere (with Df(3L)Exel9011), with ash1^{ΔPHD.Ubi-p63E}

(Dorafshan et al., 2019)

haltere (with Df(3L)Exel9011), with ash1^{ΔPHD.Ubi-p63E}, ash1^{ΔSET.Ubi-p63E}

(Dorafshan et al., 2019)

mesothoracic leg (with Df(3L)Exel9011), with ash1^{ΔBAH.Ubi-p63E}, ash1^{ΔSET.Ubi-p63E}

(Dorafshan et al., 2019)

mesothoracic leg (with Df(3L)Exel9011), with ash1^{ΔPHD.Ubi-p63E}

(Dorafshan et al., 2019)

mesothoracic leg (with Df(3L)Exel9011), with ash1^{ΔPHD.Ubi-p63E}, ash1^{ΔSET.Ubi-p63E}

(Dorafshan et al., 2019)

metathoracic leg | ectopic (with Df(3L)Exel9011), with ash1^{ΔBAH.Ubi-p63E}, ash1^{ΔSET.Ubi-p63E}

(Dorafshan et al., 2019)

metathoracic leg | ectopic (with Df(3L)Exel9011), with ash1^{ΔPHD.Ubi-p63E}

(Dorafshan et al., 2019)

metathoracic leg | ectopic (with Df(3L)Exel9011), with ash1^{ΔPHD.Ubi-p63E}, ash1^{ΔSET.Ubi-p63E}

(Dorafshan et al., 2019)

wing | ectopic (with Df(3L)Exel9011), with ash1^{ΔBAH.Ubi-p63E}, ash1^{ΔSET.Ubi-p63E}

(Dorafshan et al., 2019)

wing | ectopic (with Df(3L)Exel9011), with ash1^{ΔPHD.Ubi-p63E}

(Dorafshan et al., 2019)

wing | ectopic (with Df(3L)Exel9011), with ash1^{ΔPHD.Ubi-p63E}, ash1^{ΔSET.Ubi-p63E}

(Dorafshan et al., 2019)

Detailed Description

Statement

Reference

ash1³ heterozygotes are viable, fertile and show no homeotic transformations.

The ash1^3M/Df(3L)Exel9011 individuals rescued to adulthood by ash1^{ΔPHD.Ubi-p63E}/ash1^{ΔPHD.Ubi-p63E}, ash1^{ΔPHD.Ubi-p63E}/ash1^{ΔSET.Ubi-p63E} or ash1^{ΔSET.Ubi-p63E}/ash1^{ΔBAH.Ubi-p63E} show mild or no homeotic transformation: transformation of the third thoracic segment (T3) to second thoracic segment (T2), including partial transformation of haltere to wing, and the third leg to second leg transformation; transformation of posterior abdominal segments to more anterior fate.