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Strain Common Names	situs inversus;
Genes & Alleles	Dnahc11;   Dnahc11iv;   Tyrp1;   Tyrp1b;

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Product Information

Strain Details

Type Inbred Strain Additional information on Inbred Strains. Type JAX® GEMM® Strain - Mutant Strain Additional information on JAX® GEMM® Strains. Species laboratory mouse H2 Haplotype d

Appearance
brown agouti
Related Genotype: A/A Tyrp1^b/Tyrp1^b

Strain Description
DNAHC11 is important for developmental control of organ positioning in the left-right axis such that homozygosity for the situs inversus viscerum (iv) mutant allele can result not only in inverse placement of the visceral and thoracic organs, but also in anomalous positioning and interactions of blood vessels (including the hepatic portal, inferior vena cava, and azygos vein) and modified shape of organs and blood vessels, including abnormal lobation of lungs or liver. Approximately 50% of mice homozygous for Dnahc11^iv have situs inversus, and the likelihood of situs inversus is not impacted by whether the homozygous parent has situs inversus. This indicates that wild type Dnahc11 instructs left-right asymmetry, and in the absence of functional Dnahc11 the direction of this asymmetry is random. Heterotaxia is found in less than half of homozygotes and occurs equally in those that do and do not have situs inversus. While heterotaxia may be impacted by genetic background, the incidence of situs inversus has not shown this variation. Situs inversus can be identified shortly after birth, until the skin thickens at approximately day 5, by viewing the location of the milk-filled stomach through the skin. Homozygotes are generally viable and do breed, although poorreproductive performance with a high rate of resorption has been reported by Brown et al. (Development 1989). Some premature death has been reported and may be caused by deformities of the cardiac loop. (Hummel and Chapman, 1959; Layton 1976; Brown et al., 1989; Icardo and Colvee, 2001.)

Strain Development
In 1956 Katherine Hummel reported finding situs inversus viscerum (iv) in 6 out of 42 mice in the F3 generation from a cross of a C3H/e female with an my/my male. This my/my male was likely from the line that was then being inbred to become My/Hu (see stock#000265). The my mutation was bred out of this new mutant stock and in 1972 the iv-bearing stock was transferred from Katherine Hummel to Robert Collins, both at The Jackson Laboratory. Collins began inbreeding from the outbred stock in 1975 and this generated the strain SI/Col which is homozygous for Dnahc11^iv, a, and Tyrp1^b. SI/Col reached F62 in 1994 and F88 in 2004.

Mammalian Phenotype Terms assigned by genotype Dnahc11iv/Dnahc11iv         SI/Col Tyrp1b Dnahc11iv/J cardiovascular system phenotype abnormal cardiovascular system morphology (MGI Ref ID J:4058) homozygotes exhibit various cardiovascular, spleen and liver defects that may or may not co-occur in the same mouse 7.6% display cardiac lesions, which are more common in females (11.5%) than in males (3.1%) and in fetuses (16%) than in adults (3.6%) abnormal heart atrium morphology (MGI Ref ID J:4058) 50.2% exhibit mirror-image arrangement of the atrial appendages 3.3% have left atrial isomerism incidence of isomerism of the atrial appendages is significantly higher in females (7.4%) than in males (1.6%) and in fetuses (12%) than in adults (1.4%) right atrial isomerism (MGI Ref ID J:4058) 1.5% have right atrial isomerism abnormal vein morphology (MGI Ref ID J:4058) 26.6% exhibit a ventral portal vein, with the incidence of the ventral location significantly higher in females (33.1%) than in males (18.9%) abnormal inferior vena cava morphology (MGI Ref ID J:4058) 17.8% show an abnormal connection of the inferior caval vein, with the abnormal arrangement more common in fetuses (29.3%) than in adults (15%) growth/size phenotype right atrial isomerism (MGI Ref ID J:4058) 1.5% have right atrial isomerism situs inversus (MGI Ref ID J:4058) seen in about 50% of homozygotes hematopoietic system phenotype abnormal spleen morphology (MGI Ref ID J:4058) 36.4% exhibit an abnormal spleen, which is seen more often in females (44.6%) than in males (26.8%) spleen abnormalities include fissured, bilobed, elongated or absent spleen immune system phenotype abnormal spleen morphology (MGI Ref ID J:4058) 36.4% exhibit an abnormal spleen, which is seen more often in females (44.6%) than in males (26.8%) spleen abnormalities include fissured, bilobed, elongated or absent spleen liver/biliary system phenotype abnormal liver morphology (MGI Ref ID J:4058) abnormal arrangement of the liver, which is more common in females (42.6%) than in males (26.8%) embryogenesis phenotype abnormal embryo implantation (MGI Ref ID J:4058) females with bilobed or fissured spleens or with abnormal livers have fewer implantation sites than those with normal spleens and livers

Gene & Allele Details

Allele Symbol		Dnahc11iv
Allele Name		situs inversus viscerum
Common Name(s)		iv;
Strain of Origin		(C3HeB/Fe x STOCK Frem2)F3
Gene Symbol and Name		Dnahc11, dynein, axonemal, heavy chain 11
Chromosome		12
Gene Common Name(s)		CILD7; DNAHBL; DNHBL; DPL11; Dnah11; FLJ30095; FLJ37699; iv; lrd; situs inversus viscerum;
General Note		About 50 per cent of homozygotes showed left-right transposition of stomach and abdominal viscera. About half of all the homozygotes showed discordance in asymmetry between the stomach and the major abdominal and thoracic veins, the discordance occurringwith similar frequency in mice with normal and reversed viscera. In the stock examined by Hummel and Chapman (J:212) penetrance was found to be 71 per cent when mice were classified by both these criteria. Layton (J:5788) has postulated that the wild type allele of the Dnahc11 locus is necessary for development of the normal asymmetrical configuration of the viscera. In iv/iv mice, this control is absent, allowing random direction of the asymmetry and thus accounting for the fact that only 50 per cent ofthe homozygotes show reversed asymmetry.
Molecular Note		A G-to-A transition mutation led to a substitution of a glutamate to a lysine in the encoded protein. This residue is located between the second and third P-loop motifs, a highly conserved region that constitutes the motor domain. [MGI Ref ID J:44093]
Allele Symbol		Tyrp1b
Allele Name		brown
Strain of Origin		C57BL
Gene Symbol and Name		Tyrp1, tyrosinase-related protein 1
Chromosome		4
Gene Common Name(s)		B; CAS2; CATB; GP75; TRP; TRP-1; TRP1; TYRP; Tyrp; b; b-PROTEIN; brown; iris stromal atrophy; isa; tyrosinase-related protein;
General Note		Tyrp1b, brown, recessive. This type mutant of the brown locus is an old mutation of the mouse fancy. The eumelanin of the hair and eyes is brown rather than black. The pigment granules also appear brown rather than black and are spheroid rather than ovoid in shape (J:12970). The fine structure of the developing pigment granules is fibrillar, like that of wild type mice, but the appearance of the mature granule may be more coarsely granular (J:5346, J:5001, J:5068). The granules incorporate twice as much 14C-tyrosine as normal (J:12173).
Molecular Note		A G-to-A transition point mutation at position 329 was shown by revertant analysis to be responsible for the mutant phenotype seen in the brown mutant. This mutation is predicted to change a cysteine residue to a tyrosine in the encoded protein. Three other point mutations in the brown sequence were identified, but do not contribute to the mutant phenotype. [MGI Ref ID J:44435]

Control Information

Allele	Control
Dnahc11iv	None Available
Considerations for Choosing Controls

Related Strains

Strains carrying   Dnahc11^iv allele

000773

B6;129T-Dnahc11iv/J

View Strains carrying   Dnahc11^iv     (1 strain)

Strains carrying   Tyrp1^b allele

000004	ABP/LeJ
000571	B6.Cg-Whrnwi Tyrp1b/+ +/J
000027	B6.D-Tyrp1b m/J
000670	DBA/1J
000265	MY/HuLeJ
000064	STOCK a Tyrp1b Sisi/J
002238	STOCK a Tyrp1b shmy/J
001432	STOCK a/a Tyrp1b sks/Tyrp1b +/J
000594	STOCK T(2;8)26H a/T(2;8)26H a Tyrp1+/Tyrp1b/J
001101	STOCK T(3;4)5Rk Tyrp1b/J
000274	TSJ/LeJ

View Strains carrying   Tyrp1^b     (11 strains)

Strains carrying other alleles of Tyrp1

000068	C57BL/6J-Tyrp1b-J/J
000093	C57BL/6J-Tyrp1b-cJ/J
000671	DBA/2J
003588	LT/SvEi
006252	LT/SvEiJ
002142	STOCK 11R30m/J
000594	STOCK T(2;8)26H a/T(2;8)26H a Tyrp1+/Tyrp1b/J

View Strains carrying other alleles of Tyrp1     (7 strains)

Phenotypic Data

Mouse Phenome Database

Additional Web Information

Genetic Quality Control Annual Report

Research Applications

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

Dnahc11^iv related

Developmental Biology Research
Internal/Organ Defects (heart: vasculature)
Internal/Organ Defects (situs inversus)

Tyrp1^b related

Dermatology Research
Color and White Spotting Defects

Mouse/Human Gene Homologs
oculocutaneous albinism type III

References

Additional References

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Price and Supply Information

Strain Name:	SI/Col Tyrp1b Dnahc11iv/J
Stock Number:	001045

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Supply Details

Standard Supply	Repository-Cryopreserved. Must Be Recovered. Please refer to pricing and supply notes for further information.
Supply Notes	Cryorecovery - Standard. The recovery process begins when a signed agreement form is returned to the Customer Service Department after order placement. Although results vary by strain, at least two males and two females (two pairs) will be provided, typically within 15 weeks of our receipt of the signed agreement form. If the first recovery attempt is unsuccessful or only one pair is recovered, a second recovery will be done, extending the delivery time to approximately 25 weeks. At least one member of each pair will be of known genotype and will carry the mutation if it is a mutant strain. Please note that pairs may not reflect the mating scheme utilized by The Jackson Laboratory prior to cryopreservation of the strain. Mating schemes are sometimes modified for successful cryopreservation. Price represents a repository maintenance fee, which includes the cost of recovery of the strain from the cryopreservation resource and the periodic replacement of the frozen embryos used for recovery. Cryorecovery to establish a Dedicated Supply for greater quantities of mice. One to two pairs will be recovered to establish a Dedicated Supply of mice. Price by quotation. For more information on Dedicated Supply, please contact JAX® Services: Tel: 1-800-422-6423 or 1-207-288-5845; Email: jaxservices@jax.org. This strain is included in the Mouse Mutant Resource collection. Genomic DNA is available for this strain from the Mouse DNA Resource.
Licensing	See General Terms and Conditions below
Control Information	View Control Information in Strain Details.

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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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