Overview

This spontaneous mutation in myosin X causes syndactyly in the front feet, white belly spots, irregular tail pigment, and ocular abnormalities such as persistent hyaloid vasculature, corneal opacity, and iris coloboma

Genetic overview

Genetic Background	Generation

Myo10^m1J

Allele Type	Gene Symbol	Gene Name
Spontaneous (Null/Knockout)	Myo10	myosin X

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Research Applications

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$2,854.50 Domestic price Cryo Recovery

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Details

Detailed Description

Mice homozygous for the Myo10^m1J spontaneous mutation have white spots on the belly and, more rarely, on the back of an otherwise black C57BL/6J coat. They are slightly smaller than normal, often have irregular regions of diminished pigment on the tail, and also have fused digits on either or both of the front feet. This syndactyly has not been found in the digits of the hind feet. Ocular abnormalities caused by this mutation include corneal opacity, iris coloboma, lens spot, and persistent hyaloid vasculature.

Development

The Myo10 mutation arose spontaneously in the strain B6.129S2-Cd4^tm1Mak/J at The Jackson Laboratory in early 2012. The Cd4^tm1Mak mutation was bred out of this mutant subline by two backcrosses to C57BL/6J. Sperm was cryopreserved from homozygous males.

Control Suggestions

Heterozygote
000664 C57BL/6J

Additional Information

Considerations for Choosing Controls

Selected References

Karst SY; Chang B; FitzMaurice B; Fairfield HE; Reinholdt LG; Bergstrom DE. 2014. A spontaneous mutation in mouse Myo10 MGI Direct Data SubmissionMGI: J:214794

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Genetics

Myo10^m1J

Allele Symbol: Myo10^m1J

Allele Name	mutation 1 Jackson
Allele Type	Spontaneous (Null/Knockout)
Allele Synonym(s)
Gene Symbol and Name	Myo10, myosin X
Gene Synonym(s)
Strain of Origin	B6.129S2-Cd4^tm1Mak/J
Chromosome	15
Molecular Note	This is a spontaneous eight nucleotide (CGACGAGT) deletion at chromosome 15 position 25,781,267-274 bp (GRCm38). The deletion disrupts exon 25 and produces a frame shift expected to truncate the full-length and all three headless transcripts following aa 948. Immunoblot of whole brain lysates from 1-month-old mutant mice revealed combined deletion of the full-length and headless forms, confirming complete loss of encoded protein.

Disease/Phenotype

Disease Terms

Research Areas By Phenotype

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

Mammalian Phenotype Terms by Genotype

The following phenotype relates to a compound genotype created using this strain

Genotype: Myo10^m1J/Myo10^m1J
B6.Cg-Myo10/GrsrJ

growth/size/body region phenotype

decreased body size
- slightly smaller than normal

pigmentation phenotype

abnormal tail pigmentation

belly spot

decreased tail pigmentation
- homozygotes often have irregular regions of diminished pigment on the tail

white spotting
- homozygotes have a white belly spot and, more rarely, a white spot on the back of an otherwise black coat

skeleton phenotype

fused phalanges

vision/eye phenotype

abnormal eye morphology

corneal opacity

iris coloboma

persistence of hyaloid vascular system

integument phenotype

abnormal tail pigmentation

belly spot

decreased tail pigmentation
- homozygotes often have irregular regions of diminished pigment on the tail

white spotting
- homozygotes have a white belly spot and, more rarely, a white spot on the back of an otherwise black coat

limbs/digits/tail phenotype

abnormal tail pigmentation

decreased tail pigmentation
- homozygotes often have irregular regions of diminished pigment on the tail

fused phalanges

syndactyly
- fused digits on either or both of the front feet, but not the hind feet

Genotype: Myo10^m1J/Myo10^m1J
involves: C57BL/6J

cardiovascular system phenotype

hemorrhage
- 64% of homozygous embryos from heterozygous matings had blood in the amniotic fluid
- all eight E15.5 embryos obtained from a homozygous mating exhibited blood in the amniotic sac

integument phenotype

belly spot
- all (14 of 14) pups showed a white belly spot

white spotting
- 14 of 14 pups had a white belly spot and 4 of 14 also had a white spot on the back

limbs/digits/tail phenotype

syndactyly
- 6 of 14 pups showed webbed digits on one or both forelimbs

liver/biliary system phenotype

absent liver
- 1 of the eight E15.5 embryos obtained from a homozygous mating was very small and appeared to lack a liver

mammalian phenotype

behavior/neurological phenotype
- Normal - young adult homozygotes did not display obvious circling or shaking and showed a normal Preyer reflex

mortality/aging

decreased survivor rate
- less than half of homozygotes obtained from heterozygous matings survived birth; these were able to feed, develop into adults, and mate successfully

lethality during fetal growth through weaning, incomplete penetrance
- although homozygotes obtained from heterozygous matings were present at normal Mendelian ratios at E12.5-E17.5, homozygous mutant pups were obtained at less than half the expected number, with 14 of 174 (8%) being mutant pups versus 48 of 174 (28%) wild-type pups; fetuses undergoing resorption were also observed

nervous system phenotype

abnormal brain morphology
- exencephalic embryos showed absence of a cranium and gross defects in brain morphology

craniorachischisis
- 18% of embryos exhibited craniorachischisis

exencephaly
- 7 of the eight E15.5 embryos obtained from a homozygous mating had exencephaly, including one that also had omphalocele
- 73% of embryos obtained from heterozygous matings exhibited exencephaly

pigmentation phenotype

belly spot
- all (14 of 14) pups showed a white belly spot

white spotting
- 14 of 14 pups had a white belly spot and 4 of 14 also had a white spot on the back

skeleton phenotype

acrania
- exencephalic embryos showed absence of a cranium and gross defects in brain morphology

vision/eye phenotype

abnormal lens development
- at E16.5, eyes exhibited defects in lens formation, often associated with persistent hyaloid vasculature

anophthalmia
- 1 of 14 pups showed anophthalmia

failure of eyelid fusion
- at E16.5, some eyes failed to undergo eyelid closure; failure of or delayed eyelid closure was observed both in exencephalic and non-exencephalic embryos

microphthalmia
- 3 of 14 pups showed severe microphthalmia

persistence of hyaloid vascular system
- all 5 of the homozygotes whose eyes were dissected at 6 weeks showed persistent hyaloid vasculature that was pigmented and present bilaterally

craniofacial phenotype

acrania
- exencephalic embryos showed absence of a cranium and gross defects in brain morphology

embryo phenotype

craniorachischisis
- 18% of embryos exhibited craniorachischisis

decreased embryo size
- 9% of embryos exhibited gross developmental defects such as very small size
- embryos were slightly smaller than controls even in the absence of exencephaly or other major defects

growth/size/body region phenotype

decreased body weight
- at P21 and P28, the average body weight was slightly smaller than that of wild-type and heterozygous controls

decreased embryo size
- 9% of embryos exhibited gross developmental defects such as very small size
- embryos were slightly smaller than controls even in the absence of exencephaly or other major defects

References

Karst SY; Chang B; FitzMaurice B; Fairfield HE; Reinholdt LG; Bergstrom DE. 2014. A spontaneous mutation in mouse Myo10 MGI Direct Data SubmissionMGI: J:214794

Additional - Myo10^m1J related

Technical Support

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Genotyping Protocols
- Sanger sequencing:Myo10
- Genotyping resources and troubleshooting
Citation
When using the B6.Cg-Myo10^m1J/GrsrJ mouse strain in a publication, please cite the originating article(s) and include JAX stock #024583 in your Materials and Methods section.

Animal Health Reports

Facility Barrier Level Descriptions

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

Pricing & Availability

Cryo Recovery

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Live Mouse

Age

Genotype

Price

weeks

Cryorecovery - Pricing

Service/Product	Description	Price
	Heterozygous for Myo10<m1J>

Related Products and Services

Frozen Mouse Embryo	B6.Cg-Myo10<m1J>/GrsrJ Frozen Embryo	$2595.00
Frozen Mouse Embryo	B6.Cg-Myo10<m1J>/GrsrJ Frozen Embryo	$2595.00
Frozen Mouse Embryo	B6.Cg-Myo10<m1J>/GrsrJ Frozen Embryo	$3373.50
Frozen Mouse Embryo	B6.Cg-Myo10<m1J>/GrsrJ Frozen Embryo	$3373.50

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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. We do not guarantee breeding performance and therefore suggest that investigators order more than one breeding pair to avoid delays in their research.

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Genetic overview

Research Applications

Base Price

Detailed Description

Development

Control Suggestions

Additional Information

Selected References

Myo10m1J

Allele Symbol: Myo10m1J

Disease Terms

Research Areas By Phenotype

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

Mammalian Phenotype Terms by Genotype

Genotype: Myo10m1J/Myo10m1JB6.Cg-Myo10/GrsrJ

growth/size/body region phenotype

pigmentation phenotype

skeleton phenotype

vision/eye phenotype

integument phenotype

limbs/digits/tail phenotype

Genotype: Myo10m1J/Myo10m1Jinvolves: C57BL/6J

cardiovascular system phenotype

integument phenotype

limbs/digits/tail phenotype

liver/biliary system phenotype

mammalian phenotype

mortality/aging

nervous system phenotype

pigmentation phenotype

skeleton phenotype

vision/eye phenotype

craniofacial phenotype

embryo phenotype

growth/size/body region phenotype

References

Additional - Myo10m1J related

Genotyping Protocols

Citation

Animal Health Reports

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

Live Mouse

Cryorecovery - Pricing

Related Products and Services

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

Myo10^m1J

Allele Symbol: Myo10^m1J

Genotype: Myo10^m1J/Myo10^m1J
B6.Cg-Myo10/GrsrJ

Genotype: Myo10^m1J/Myo10^m1J
involves: C57BL/6J

Additional - Myo10^m1J related