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Strain Detail Sheet

Published: 01/27/2021
Revised: 02/08/2021

Strain Name:
B6.Cg-Esrp1tm1.2Rpc/Mmucd
Stock Number:
068068-UCD
Citation ID:
RRID:MMRRC_068068-UCD
Other Names:
Esrp1

Strain Information

Gene Details

Esrp1tm1.2Rpc
Name: epithelial splicing regulatory protein 1; targeted mutation 1.2, Russ P Carstens
Type: Allele
Species: Mus musculus (mouse)
Chromosome:
Alteration at locus: Knockout
Esrp1
Name: epithelial splicing regulatory protein 1
Synonyms: 2210008M09Rik, Rbm35a
Type: Gene
Species: Mouse
Chromosome: 4
NCBI: 207920
Homologene: 9785

Additional Resources
IMPC
Google
Entrez
PubMed
IMSR
Gene Ontology
BioGPS
Gene Cloud
IGTC
Mouse Phenome DB
Mouse Mine
KOMP Phenotyping
Monarch
GeneCards
ClinGen
Genetic Alterations
LoxP sites were introduced flanking exons 7, 8, and 9. Subsequently crossed to a Flp and a Cre deleter to remove the selection cassette and to induce germline deletion, producing a frameshift.
ES Cell Line
v6.5 derived from (C57BL/6 x 129S4/SvJae)F1

Strain Description

Phenotype
Homozygous KO animals present with cleft lip associated with cleft palate (CL/P), hypoplasia of the kidneys, and cochlear defects. When combined with Esrp2-/-, more extensive developmental defects occur, including lung agenesis, salivary gland agenesis, colonic atresia, epidermal hypoplasia, and upper limb defects.
Strain GQC Summary
Gene Specific Genotyping:

To request gene-specific and other genotyping services for a strain, please contact the distribution MMRRC Center for more information.

Background Genetic Quality:

The MMRRC has developed a Genetic Quality Control pipeline using the MiniMUGA array to provide additional information to identify and validate genetic backgrounds of MMRRC strains. For more information on whether genetic background data is available, please contact MMRRC_GeneticQC@med.unc.edu. Note: that MiniMUGA genetic background data is not available on all strains, but can be ordered if desired.

Suggested Control Mice
Littermates of all relevant genotypes.

Research Applications

  • Developmental Biology
  • Models for Human Disease

Strain Origin

Submitter
Russ Carstens, M.D., University of Pennsylvania.
Primary Reference

Bebee TW, Park JW, Sheridan KI, Warzecha CC, Cieply BW, Rohacek AM, Xing Y, Carstens RP. The splicing regulators Esrp1 and Esrp2 direct an epithelial splicing program essential for mammalian development. Elife. 2015 Sep 15;4:e08954. doi: 10.7554/eLife.08954. (Medline PMCID: 4566030)

Rohacek AM, Bebee TW, Tilton RK, Radens CM, McDermott-Roe C, Peart N, Kaur M, Zaykaner M, Cieply B, Musunuru K, Barash Y, Germiller JA, Krantz ID, Carstens RP, Epstein DJ. ESRP1 Mutations Cause Hearing Loss due to Defects in Alternative Splicing that Disrupt Cochlear Development. Dev Cell. 2017 Nov 6;43(3):318-331.e5. doi: 10.1016/j.devcel.2017.09.026. Epub 2017 Oct 26. (Medline PMCID: 5687886)

Lee S, Cieply B, Yang Y, Peart N, Glaser C, Chan P, Carstens RP. Esrp1-Regulated Splicing of Arhgef11 Isoforms Is Required for Epithelial Tight Junction Integrity. Cell Rep. 2018 Nov 27;25(9):2417-2430.e5. doi: 10.1016/j.celrep.2018.10.097. (Medline PMCID: 6371790)

Lee S, Sears MJ, Zhang Z, Li H, Salhab I, Krebs P, Xing Y, Nah HD, Williams T, Carstens RP. Cleft lip and cleft palate in Esrp1 knockout mice is associated with alterations in epithelial-mesenchymal crosstalk. Development. 2020 Apr 30;147(21):dev187369. doi: 10.1242/dev.187369. (Medline PMCID: 7225129)

Strain Development
The targeting vector for Esrp1 features a loxP site in intron 6 upstream of exon 7, and a neomycin selection cassette flanked by FRT sites in intron 9 followed by a loxP site. Following the electroporation into V6.5 ES cells, 21 total chimeras were generated, from which males were crossed to C57BL/6J females. The conditional allele was generated by crossing of male #114, from chimera 1.9 to B6(C3)-Tg(Pgk1-FLPo)10Sykr/J females (RRID:IMSR_JAX:011065) to remove the neomycin cassette. Offspring were screened for removal of the neomycin cassette by PCR analysis. Heterozygous Esrp1flox/+ mice were crossed to generate homozygous Esrp1flox/flox conditional mice, with no apparent phenotype, and to maintain the line. The Esrp1 KO allele for ubiquitous ablation of Esrp1 was generated by crossing of male #31, from chimera 1.10 to C57BL/6-Tg(Zp3-cre)93Knw/J females (RRID:IMSR_JAX:003651). Minimally three subsequent C57BL/6J backcrosses.

Disclaimer: If MMRRC Strain Genetic Quality Control (GQC; based on MiniMUGA genotyping and analysis) has been completed for this strain, the information might differ from the genetic background information provided by the submitter. MiniMUGA genetic analysis is done on a strain's tissue samples taken when archived by or ordered from the assigned MMRRC Center.

Colony and Husbandry Information

Health Status Report

Colony Surveillance Program and Current Health Reports

For more information about this colony's health status contact mmrrc@ucdavis.edu

Appearance

Coat Color
Black
Eye
Black

Breeding

MMRRC Breeding System
Random intra-strain mating
Generation
N3+ (C57BL/6J), F2+
Overall Breeding Performance
Good

Reproductive Statistics

Viability and Fertility: Female Male Comments
Homozygotes are viable: No No
Homozygotes are fertile: N/A N/A
Heterozygotes are fertile: Yes Yes
Age Reproductive Decline: 7 to 9 months 7 to 9 months
Bred to Homozygosity
Yes
Average litter size
4 to 6
Recommended wean age
3 Weeks
Average Pups Weaned
4 to 6

Order Information

Availability Level

When this strain becomes available, Limited quantities of breeder mice (recovered litter) are available from a cryoarchive; recovered litter usually available to ship in 3 to 4 months.

Conditions of Distribution

Distribution of this strain requires submission of the MMRRC Conditions of Use (COU). A link to the COU web form will be provided via email after an order has been placed; the form should be completed then or the email forwarded to your institutional official for completion.

The submitter or their institution limits the distribution to non-profit institutions only.

Fees

- Products for this strain are Not Yet Available for Ordering
- If you register interest in this strain, you will be notified when it becomes available for ordering.

To request material from the MMRRC: Please fill out our on-line request form (accessible from the catalog search results page, or click the Request this Strain button in the fees section). If you have questions or need assistance completing this form, you may call Customer Service at (800) 910-2291 (in USA or Canada) or (530) 757-5710 (international calls). Before you call, please have with you: the MMRRC item number, quantity needed, Bill-to and Ship-to contact information.