Analysis Tools|
Allele Symbol Allele Name Allele ID |
H19+ wild type MGI:1889531 |
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| Summary |
14 genotypes
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• heterozygotes maternally inheriting this allele are viable
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
| N |
• heterozygotes display normal imprinted expression of H19 and Igf2
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• heterozygotes maternally or paternally inheriting this allele are viable and fertile with no gross abnormalities
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• mice are 8% heavier than normal when this allele is inherited maternally
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• placentas are 54% heavier at E18.5 than in wild-type when the mutated allele is inherited maternally
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• heavier than controls at E18.5 when the mutated allele is inherited maternally
(J:75054)
• heterozygotes inheriting the mutant allele from the mother exhibit an increase in body mass (28% difference from wild-type)
(J:25091)
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• defects are seen in heterozygotes that receive the mutant allele from the mother while those that receive the mutant allele from the father are normal
(J:25091)
• when maternally inherited, the maternal H19 gene is repressed and the normally imprinted Igf2 and Ins-2 genes are expressed
(J:25091)
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• mice exhibit a 1.4-fold increase in the number of adenomas compared to in Apctm1Cip heterozygotes
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• some adenocarcinoma in situ in the intestines
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• mice exhibit a 2.2-fold increase in the number of adenomas compared to in Apctm1Cip heterozygotes
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• mice exhibit a 3-fold increase in the number of small polyps compared to in Apctm1Cip heterozygotes
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• some adenocarcinoma in situ in the intestines
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
| N |
• no paragangliomas nor pheochromocytomas are detected in mice at up to 29 months of age in contrast to expectations from human disease data
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| N |
• no significant changes in carotid body or the adrenal medulla are seen
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
| N |
• indistinguishable in size from wild-type in birth weights and postnatal growth rates
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
 |
• about 70% of double mutants that inherit the H19 allele maternally are stillborn
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• some additional mutants (that inherit the H19 allele maternally) that survive the perinatal period die before weaning
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• defects are seen in double mutants that receive the H19 mutant allele from the mother
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• about 70% of double mutant males that inherit the H19 allele maternally are stillborn
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• some additional mutants (that inherit the H19 allele maternally) that survive the perinatal period die before weaning
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• placentas are 94% heavier at E18.5 than in wild-type in double mutants that inherit the H19 allele maternally
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• double mutants that inherit the H19 allele maternally are heavier than wildtype at E18.5, but similar in weight as either single mutant
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• seen in 13 of 16 double mutants that inherit the H19 allele maternally
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• 3 of 6 double mutants that inherit the H19 allele maternally exhibit asymmetrical and staggered attachment of the ribs to the sternum
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• in 3 of 6 mutants double mutants that inherit the H19 allele maternally, the cartilage of the xiphisternum is bifurcated
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• one severely affected double mutant with the fusion of the first two ribs also has an extra (14th) pair of rudimentary ribs associated with the first pair of lumbar vertebrae
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• one severely affected double mutant shows unilateral fusion of the first two ribs in the middle portion
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• ossification of the sternum throughout its length
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• defects are seen in double mutants that receive the H19 mutant allele from the mother
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| Simpson-Golabi-Behmel syndrome type 1 | DOID:0060248 |
OMIM:312870 |
J:75054 | |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• Ifg2 expression is normal indicating that imprinting is normal at this locus
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• by 6 months mice with paternal inheritance of H19tm1Lda develop liver tumors unlike in wild-type mice
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| N |
• mice with paternal inheritance of H19tm1Lda live longer than those expressing only Tg(CRP-TAg)60-3Urt
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• by 6 months mice with paternal inheritance of H19tm1Lda develop liver tumors unlike in wild-type mice
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• when H19tm1Lda is inherited paternally, mice display a more than 3 week delay in spontaneous tumorigenesis and subsequent mortality associated with Tg(CRP-TAg)60-3Urt expression
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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 03/18/2025 MGI 6.24 |
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