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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID 		Smchd1+
wild type
MGI:3575118
Summary 4 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
ht1
 		Smchd1em1(IMPC)Tcp/Smchd1+ C57BL/6NCrl-Smchd1em1(IMPC)Tcp/Tcp MGI:7415080
ht2
 		Smchd1MommeD1/Smchd1+ FVB/NJ-Smchd1MommeD1 MGI:3607151
ht3
 		Smchd1MommeD1/Smchd1+ involves: C57BL/6 * FVB/N MGI:3821572
cx4
 		Avy/A
Smchd1MommeD1/Smchd1+ 		involves: C57BL/6J * FVB/NJ MGI:3607153


Genotype
MGI:7415080
ht1
Allelic
Composition		 Smchd1em1(IMPC)Tcp/Smchd1+
Genetic
Background		 C57BL/6NCrl-Smchd1em1(IMPC)Tcp/Tcp
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Smchd1em1(IMPC)Tcp mutation (2 available); any Smchd1 mutation (144 available)
Data Sources
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
nervous system

skeleton




Genotype
MGI:3607151
ht2
Allelic
Composition		 Smchd1MommeD1/Smchd1+
Genetic
Background		 FVB/NJ-Smchd1MommeD1
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Smchd1MommeD1 mutation (0 available); any Smchd1 mutation (144 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
cellular
abnormal imprinting ( J:99816 )
• DNA methylation is decreased at the CpG island of Hprt




Genotype
MGI:3821572
ht3
Allelic
Composition		 Smchd1MommeD1/Smchd1+
Genetic
Background		 involves: C57BL/6 * FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Smchd1MommeD1 mutation (0 available); any Smchd1 mutation (144 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
cellular
abnormal DNA methylation ( J:142334 )
• heterozygous female methylation levels are low in embryos but become normal in adults




Genotype
MGI:3607153
cx4
Allelic
Composition		 Avy/A
Smchd1MommeD1/Smchd1+
Genetic
Background		 involves: C57BL/6J * FVB/NJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
A mutation (80 available); any a mutation (468 available)
Avy mutation (4 available); any a mutation (468 available)
Smchd1MommeD1 mutation (0 available); any Smchd1 mutation (144 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
pigmentation
yellow coat color ( J:99816 )
• more female pups with yellow coat color are produced when a MommeD1 sire is crossed with a psuedoagouti dam but not when the reciprocal cross is made

integument
yellow coat color ( J:99816 )
• more female pups with yellow coat color are produced when a MommeD1 sire is crossed with a psuedoagouti dam but not when the reciprocal cross is made




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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Send questions and comments to User Support. 		last database update
03/18/2025
MGI 6.24 		The Jackson Laboratory