JAX Mouse Strain Datasheet - 004235

B6(AKR)-Pfas^Sofa/GrsrJ

Stock No:: 004235 |; short face

Spontaneous Mutation

Cryo Recovery

Overview

Also Known As: short face

The Pfas^Sofa semidominant allelic series on the C57BL/6J background all cause a short snout and related craniofacial defects, along with variably penetrant phenotypes of white belly spot and tail tip.

Genetic overview

Genetic Background	Generation

Pfas^Sofa

Allele Type	Gene Symbol	Gene Name
Spontaneous	Pfas	phosphoribosylformylglycinamidine synthase (FGAR amidotransferase)

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Research Applications

Developmental Biology Research

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Base Price

Starting at:

$2,595.00 Domestic price Cryo Recovery

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Details

Detailed Description

The short face mutation is lethal in homozygotes and has varying penetrance in heterozygous carriers, which can be phenotypically undetectable or can display a short, upturned nose, domed skull, and wide-set eyes. Heterozygotes often have a white belly spot or white tail tip but these phenotypes have incomplete penetrance.

Development

The Sofa mutation arose spontaneously in the B6(AKR)-Apc^Min/J strain at The Jackson Laboratory in 2000 when that strain was at generation N47. The mutant subline was backcrossed once to C57BL/6J and thereafter maintained by sibling intercrossing phenotypic wildtype with phenotypic carriers of this dominant mutation. The absence of the Apc^Min mutation has been confirmed twice.

Control Suggestions

000664 C57BL/6J

Additional Information

Considerations for Choosing Controls

Selected References

Curtain MM; Donahue LR. 2007. A short face mutation on Chromosome 11 MGI Direct Data Submission :. MGI: J:125614
Fairfield H; Gilbert GJ; Barter M; Corrigan RR; Curtain M; Ding Y; D'Ascenzo M; Gerhardt DJ; He C; Huang W; Richmond T; Rowe L; Probst FJ; Bergstrom DE; Murray SA; Bult C; Richardson J; Kile BT; Gut I; Hager J; Sigurdsson S; Mauceli E; Di Palma F; Lindblad-Toh K; Cunningham ML; Cox TC; Justice MJ; Spector MS; Lowe SW; Albert T; Donahue LR; Jeddeloh J; Shendure J; Reinholdt LG. 2011. Mutation discovery in mice by whole exome sequencing. Genome Biol 12(9):R86. PubMed: 21917142 MGI: J:176116
Palmer K; Fairfield H; Borgeia S; Curtain M; Hassan MG; Dionne L; Yong Karst S; Coombs H; Bronson RT; Reinholdt LG; Bergstrom DE; Donahue LR; Cox TC; Murray SA. 2016. Discovery and characterization of spontaneous mouse models of craniofacial dysmorphology. Dev Biol 415(2):216-27. PubMed: 26234751 MGI: J:223062

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Genetics

Pfas^Sofa

Allele Symbol: Pfas^Sofa

Allele Name	short face
Allele Type	Spontaneous
Allele Synonym(s)
Gene Symbol and Name	Pfas, phosphoribosylformylglycinamidine synthase (FGAR amidotransferase)
Gene Synonym(s)	4432409B16Rik; 4432409B16Rik; FGAMS; FGAR-AT; FGARAT; GATD8; Gm18; PURL; RIKEN cDNA 4432409B16 gene; Sofa; Sofa; gene model 18, (NCBI); short face
Strain of Origin	B6(AKR)-Apc/J
Chromosome	11
Molecular Note	This spontaneous mutation was found to be a 15 base pair deletion in exon 7.

Disease/Phenotype

Disease Terms

Research Areas By Genotype

This mouse can be used to support research in many areas including:

Genotype: Pfas^Sofa related

Developmental Biology Research
- Craniofacial and Palate Defects
- Skeletal Defects

Mammalian Phenotype Terms by Genotype

Genotype: Pfas^Sofa/Pfas⁺
B6(AKR)-Pfas^Sofa/GrsrJ

limbs/digits/tail phenotype

non-pigmented tail tip
- due to incomplete penetrance some, but not all, heterozygotes have a white tail tip

adipose tissue phenotype

decreased total body fat amount

craniofacial phenotype

abnormal alveolar process morphology
- some heterozgyotes have significantly receded alveolar bone

abnormal cranium morphology
- the short face allelic series of mutants have shortened cranial length and domed skull with midfacial deficiency

abnormal interfrontal bone morphology
- the interfrontal bone is diamond-shaped and prematurely fuses with the nasal bones

decreased cranium length

domed cranium

short snout
- a short, upturned nose

upturned snout

integument phenotype

belly spot
- due to incomplete penetrance of this phenotype some but not all heterozygotes have a white belly spot

non-pigmented tail tip
- due to incomplete penetrance some, but not all, heterozygotes have a white tail tip

pigmentation phenotype

belly spot
- due to incomplete penetrance of this phenotype some but not all heterozygotes have a white belly spot

non-pigmented tail tip
- due to incomplete penetrance some, but not all, heterozygotes have a white tail tip

skeleton phenotype

abnormal alveolar process morphology
- some heterozgyotes have significantly receded alveolar bone

abnormal cranium morphology
- the short face allelic series of mutants have shortened cranial length and domed skull with midfacial deficiency

abnormal interfrontal bone morphology
- the interfrontal bone is diamond-shaped and prematurely fuses with the nasal bones

abnormal synchondrosis
- severely affected heterozygotes have premature ossification of one or more cranial base synchondroses

decreased bone mineral content
- particularly that of the skull

decreased cranium length

domed cranium

vision/eye phenotype

abnormal eye morphology
- a range of eye defects are found including mocrophthalmia and anophthalmia

anophthalmia
- in some heterozygotes

microphthalmia
- in some heterozgyotes

ocular hypertelorism

growth/size/body region phenotype

decreased body weight
- heterozygotes are slightly smaller than normal

decreased lean body mass

short snout
- a short, upturned nose

upturned snout

References

Curtain MM; Donahue LR. 2007. A short face mutation on Chromosome 11 MGI Direct Data Submission :. MGI: J:125614
Fairfield H; Gilbert GJ; Barter M; Corrigan RR; Curtain M; Ding Y; D'Ascenzo M; Gerhardt DJ; He C; Huang W; Richmond T; Rowe L; Probst FJ; Bergstrom DE; Murray SA; Bult C; Richardson J; Kile BT; Gut I; Hager J; Sigurdsson S; Mauceli E; Di Palma F; Lindblad-Toh K; Cunningham ML; Cox TC; Justice MJ; Spector MS; Lowe SW; Albert T; Donahue LR; Jeddeloh J; Shendure J; Reinholdt LG. 2011. Mutation discovery in mice by whole exome sequencing. Genome Biol 12(9):R86. PubMed: 21917142 MGI: J:176116
Palmer K; Fairfield H; Borgeia S; Curtain M; Hassan MG; Dionne L; Yong Karst S; Coombs H; Bronson RT; Reinholdt LG; Bergstrom DE; Donahue LR; Cox TC; Murray SA. 2016. Discovery and characterization of spontaneous mouse models of craniofacial dysmorphology. Dev Biol 415(2):216-27. PubMed: 26234751 MGI: J:223062

Additional - Pfas^Sofa related

Fairfield H; Srivastava A; Ananda G; Liu R; Kircher M; Lakshminarayana A; Harris BS; Karst SY; Dionne LA; Kane CC; Curtain M; Berry ML; Ward-Bailey PF; Greenstein I; Byers C; Czechanski A; Sharp J; Palmer K; Gudis P; Martin W; Tadenev A; Bogdanik L; Pratt CH; Chang B; Schroeder DG; Cox GA; Cliften P; Milbrandt J; Murray S; Burgess R; Bergstrom DE; Donahue LR; Hamamy H; Masri A; Santoni FA; Makrythanasis P; Antonarakis SE; Shendure J; Reinholdt LG. 2015. Exome sequencing reveals pathogenic mutations in 91 strains of mice with Mendelian disorders. Genome Res 25(7):948-57. PubMed: 25917818 MGI: J:222308

Pricing & Availability

Cryo Recovery

Domestic
International

Live Mouse

Age

Genotype

Price

weeks

Cryorecovery - Pricing

Service	Genotype	Price
	Please inquire about possible genotypes.

Progeny testing is not required

The average number of mice provided from recovery of our cryopreserved strains is 10. The total number of animals provided, their gender and genotype will vary. We will fulfill your order by providing at least two pair of mice, at least one animal of each pair carrying the mutation of interest. Please inquire if larger numbers of animals with specific genotype and genders are needed. Animals typically ship between 10 and 14 weeks from the date of your order. If a second cryorecovery is needed in order to provide the minimum number of animals, animals will ship within 25 weeks.

The genotypes of animals provided may not reflect the mating scheme utilized by The Jackson Laboratory prior to cryopreservation, or that discussed in the strain description. Please inquire about possible genotypes which will be recovered for this specific strain. The Jackson Laboratory cannot guarantee the reproductive success of mice shipped to your facility. If the mice are lost after the first three days (post-arrival) or do not produce progeny at your facility, a new order and fee will be necessary.

Cryorecovery to establish a Dedicated Supply for greater quantities of mice. Mice recovered can be used to establish a dedicated colony to contractually supply you mice according to your requirements. Price by quotation.

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The Jackson Laboratory has rigorous genetic quality control and mutant gene genotyping programs to ensure the genetic background of JAX® Mice strains as well as the genotypes of strains with identified molecular mutations. JAX® Mice strains are only made available to researchers after meeting our standards. However, the phenotype of each strain may not be fully characterized and/or captured in the strain data sheets. Therefore, we cannot guarantee a strain's phenotype will meet all expectations. To ensure that JAX® Mice will meet the needs of individual research projects or when requesting a strain that is new to your research, we suggest ordering and performing tests on a small number of mice to determine suitability for your particular project.

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Licensing Information

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Also Known As: short face

Genetic overview

Research Applications

Base Price

Detailed Description

Development

Control Suggestions

Additional Information

Selected References

PfasSofa

Allele Symbol: PfasSofa

Disease Terms

Research Areas By Genotype

This mouse can be used to support research in many areas including:

Genotype: PfasSofa related

Mammalian Phenotype Terms by Genotype

Genotype: PfasSofa/Pfas+B6(AKR)-PfasSofa/GrsrJ

limbs/digits/tail phenotype

adipose tissue phenotype

craniofacial phenotype

integument phenotype

pigmentation phenotype

skeleton phenotype

vision/eye phenotype

growth/size/body region phenotype

References

Additional - PfasSofa related

Genotyping Protocols

Breeding Considerations

Animal Health Reports

Production of mice from cryopreserved embryos or sperm occurs in a maximum barrier room, G200

Live Mouse

Cryorecovery - Pricing

Progeny testing is not required

Payment Terms and Conditions

The Jackson Laboratory's Genotype Promise

Terms of Use

Licensing Information

JAX® Mice, Products & Services Conditions of Use

No Warranty

Credit for PRODUCTS or SERVICES

Animal Care and Use for SERVICES

No Liability

Pfas^Sofa

Allele Symbol: Pfas^Sofa

Genotype: Pfas^Sofa related

Genotype: Pfas^Sofa/Pfas⁺
B6(AKR)-Pfas^Sofa/GrsrJ

Additional - Pfas^Sofa related