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Strain Name:
B6.A-Pibf1m1Bei/Mmucd
Stock Number:
075979-UCD
Citation ID:
RRID:MMRRC_075979-UCD
Other Names:
Pibf1 enu; line 11

Strain Information

QUALITY CONTROL OF B6.A-Pibf1m1Bei/Mmucd  |  University of California at Davis
Last Updated:
Strain Data and Information Information by Submitter Assessed by MMRRC1,2
Published Provided
Allele-specific genotype3n.d.
Genetic backgroundn.d.
Viability of genotypes available for distribution n.d.
Specific Pathogen- Status n.d.
Recoverability of cryopreserved sperm/embryos4 n.d.
Gene or allele sequence3n.d.
Gene or allele expression3n.d.
Gene or allele function3n.d.
Observable and/or measurable phenotypesn.d.
Fertility of genotypes available for distribution n.d.
Fecundity/breeding performance n.d.

1 When indicated as verified ("YES"), then please note that information presented is to the best of our knowledge correct and up-to-date at the time of verification at the MMRRC Distribution Center; however, this information is subject to change due to breeding, maintenance, and other actions on the mouse strain at the MMRRC Distribution Center; direct any questions on this table to the MMRRC Distribution Center for this mouse stain.

2 If verification has not been performed (as indicated by "NO"), investigators may request specific verification testing for a fee. Requests should be submitted directly to the MMRRC Distribution Center assigned to the management, archiving, and distribution of the strain. A full listing of available testing and analytical services is available at https://www.mmrrc.org/about/services.php.

3 This information may or may not apply to each individual engineered allele (e.g., Cre, FlpO) present in the strain.

4 Recovery refers to thawing, in vitro fertilization (IVF), and/or embryo culture leading to live offspring.

Pibf1m1Bei
Name: progesterone immunomodulatory binding factor 1; mutation 1, David R Beier
Type: Allele
Species: Mus musculus (mouse)
Chromosome: 14
Alteration at locus: Induced Mutation
Pibf1
Name: progesterone immunomodulatory binding factor 1
Synonyms: 1700017E21Rik, 4933438D16Rik, 4933439E17Rik, 4930513H15Rik, D14Ertd581e
Type: Gene
Species: Mouse
Chromosome: 14
Alteration at locus: Induced Mutation
NCBI: 52023
VEGA: 14
Homologene: 4628
Genetic Alterations
ENU mutagenesis induced a splice donor mutation in intron 9: NM_029320.4: c.1223+2T>C; p.Arg366. Transcripts from this allele skip exon 9, resulting in the loss of the coil-coiled domain in the encoded protein.
ES Cell Line
Not applicable
Phenotype
Compound heterozygous Pibf1m1Bei/Mmucd mice displayed several craniofacial ciliopathic phenotypes (e.g., maxillary hyperplasia, aberrant midline development, and clefting) as well as forebrain abnormalities, polydactyly, perinatal lethality, and holoprosencephaly.

Used for studying ciliopathies/Joubert Syndrome.
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.
  • Developmental Biology
Donor
David Beier, M.D., Seattle Children's Research Institute.
Primary Reference

Pimentel L, Ha S, Yang Y, Cochran K, Chang CF, Houghtaling S, Gombart SK, Beier DR, Brugmann SA. Centriolar protein PIBF1 is required for craniofacial and forebrain development. Dev Biol. 2025 Aug 5;527:55-64. doi: 10.1016/j.ydbio.2025.08.001. Epub ahead of print. (Medline PMID: 40774570)

Additional References

Ha S, Stottmann RW, Furley AJ, Beier DR. A forward genetic screen in mice identifies mutants with abnormal cortical patterning. Cereb Cortex. 2015 Jan;25(1):167-79. doi: 10.1093/cercor/bht209. Epub 2013 Aug 22. (Medline PMID: 23968836)

Strain Development
The mutant line Pibf1m1Bei was originally discovered as part of an ENU mutagenesis screen for neurodevelopmental phenotypes (Ha et al. 2015) and labeled line 11.

Briefly, eight-week-old A/J male mice (G0) were treated weekly with fractionated doses of ENU by intraperitoneal injections for 3 weeks. Then, 20 A/J males were mated with C57BL6/N mice; from this, 10 G0 males recovered fertility, and 100 G1 males were generated. G1 males were screened using a three-generation breeding strategy. G1 males were outcrossed with C57BL/6N, and G2 females were backcrossed to their fathers to generate G3 animals. G3 animals were examined at E18.5 or P21 depending on the screening design.

The mutant locus was localized to an interval on Chr 14 between 79 and 107 Mb using a SNP mapping analysis. Exome sequencing of candidate genes in the interval revealed a mutation at a splice donor site in intron 9 of Pibf1 (NM_029320.4: c.1223+2T>C; p.Arg366=).


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

Colony Surveillance Program and Current Health Reports

Mice recovered from a cryo-archive will have health surveillance performed on recipient females. Health reports will be provided prior to shipment. If you require additional health status information, please email mmrrc@ucdavis.edu.
Coat Color
Black
Eye
Black
MMRRC Breeding System
Sib-mating
Generation
>10
Overall Breeding Performance
Good
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: Undetermined Undetermined
Average litter size
7 to 9
Recommended wean age
3 Weeks
Average Pups Weaned
4 to 6

Order Information

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

Cryopreserved material may be available upon request, please inquire to mmrrc@ucdavis.edu for more information.

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.

Additional charges may apply for any special requests. Shipping costs are in addition to the basic distribution/resuscitation fees. Information on shipping costs and any additional charges will be provided by the supplying MMRRC facility.

Click button to Request this one strain. (Use the MMRRC Catalog Search to request more than one strain.)
MMRRC Item # Description Distribution Fee / Unit (US $)
*Shipping & Handling not included*
Units Notes
075979-UCD-RESUS Litter recovered from cryo-archive $5,892.91 / $6,181.91
Non-Profit / For-Profit
Litter Recovered litter4; additional fees for any special requests.
Cryopreserved material may be available upon request, please inquire to mmrrc@ucdavis.edu for more information.

1 The distribution fee covers the expense of rederiving mice from a live mouse; you will receive the resulting litter. The litter will contain at minimum one mutant carrier; the actual number of animals and the gender and genotype ratios will vary. (Typically, multiple breeder pairs can be established from the recovered litter.) Prior to shipment, the MMRRC will provide information about the animals recovered. If you anticipate or find that you need to request specific genotypes, genders or quantities of mice in excess of what is likely from a resuscitated litter, you may discuss available options and pricing with the supplying MMRRC facility.

2 An aliquot contains a sufficient number of embryos (in one or more vials or straws and based on the transfer success rate of the MMRRC facility) to transfer into one to three recipients. The MMRRC makes no guarantee concerning embryo transfer success experienced in the recipient investigator's laboratory. Neither gender nor genotype ratios are guaranteed.

3 An aliquot is one straw or vial with sufficient sperm to recover at least one litter of mice, as per provided protocols, when performed at the MMRRC facility. The MMRRC makes no guarantee concerning the success of these procedures when performed outside the MMRRC facilities.

4 The distribution fee covers the expense of resuscitating mice from the cryo-archive; you will receive the resulting litter. The litter will contain at minimum one mutant carrier; the actual number of animals and the gender and genotype ratios will vary. (Typically, multiple breeder pairs can be established from the recovered litter.) Prior to shipment, the MMRRC will provide information about the animals recovered. If you anticipate or find that you need to request specific genotypes, genders or quantities of mice in excess of what is likely from a resuscitated litter, you may discuss available options and pricing with the supplying MMRRC facility.

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.