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Phenotypes Associated with This Genotype
Genotype
MGI:3712804
Allelic
Composition
Hiratm1Pjs/Hiratm1Pjs
Genetic
Background
involves: 129S1/Sv * C57BL/6 * CD-1
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hiratm1Pjs mutation (0 available); any Hira mutation (74 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• Background Sensitivity: homozygotes on a mixed CD-1 background die by E11, about a day later than on the 129S1/Sv and C57BL/6 background

growth/size/body
• Background Sensitivity: developmental delay and retarded growth are evident, but less apparent than on the 129S1/Sv and C57BL/6 background
• the most severely affected embryos have recognizable but badly patterned head structures

embryo
N
• Background Sensitivity: expression of notochord markers is normal, indicating normal axial mesoderm development, unlike on the 129S1/Sv and C57BL/6 background, in which notochord abnormalities are observed
• vascularization in the yolk sac is abnormal, with decreased number of large vessels branching off the main trunks and disorganized interlocking network of small blood vessels
• 33% of embryos have a severe phenotype, while 60% have a much milder phenotype than observed on the 129S1/Sv and C57BL/6 background; mild phenotype embryos have turned and have relatively normal caudal structures, with notochord, neural tube, and somites present
• Background Sensitivity: the most severely affected embryos do not undergo turning and resemble the milder phenotype observed in the 129S1/Sv and C57BL/6 background
• Background Sensitivity: only 7% of embryos on the CD-1 background are disorganized balls of tissue compared to 53% on 129S1/Sv and C57BL/6 background
• the most severely affected embryos have abnormal or absent caudal axial structures
• absence of caudal axial structures
• Background Sensitivity: developmental delay and retarded growth are evident, but less apparent than on the 129S1/Sv and C57BL/6 background
• in severely affected embryos, no segmentation of the somitic mesoderm is observed at E9.5
• in some cases, somites are small, malformed, or asymmetric
• in some cases, somites are small
• Background Sensitivity: 45% of embryos exhibit allantois defects compared to 67% on the 129S1/Sv and C57BL/6 background

cardiovascular system
• even in mildly affected embryos, very few large blood vessels connect the embryo to the placenta or to the yolk sac
• complex vascularization of the embryo is disrupted, with fewer vessels and larger patches of staining rather than a fine network
• vascularization in the yolk sac is abnormal, with decreased number of large vessels branching off the main trunks and disorganized interlocking network of small blood vessels
• in some embryos with normal looping, chamber formation is disrupted
• in 6 of 52 embryos, looping does not occur
• the heart chambers appear to balloon out of the linear heart tube, resulting in a dumbbell-shaped appearance, in some embryos
• some embryos exhibit severe pericardial edema, more often in embryos with a linear heart tube
• in some embryos, the heart beat is irregular, with blood being shuttled back and forth between the two chambers

homeostasis/metabolism
• some embryos exhibit severe pericardial edema, more often in embryos with a linear heart tube

nervous system
• homozygotes display head defects, particularly the failure of the brain to fuse, resulting in the neuroepithelium of the brain to form large open everted cap-like structures
• distinct forebrain structures are not discerned in some embryos


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
03/25/2025
MGI 6.24
The Jackson Laboratory