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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID 		T(7;18)50H
reciprocal translocation, Chr 7 and 18, Harwell 50
MGI:3029990
Summary 4 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
 		T(7;18)50H/T(7;18)50H involves: 101/H * C3H/HeH MGI:3846777
ht2
 		T(7;18)50H/+ involves: 101/H * C3H/HeH MGI:5497990
ht3
 		T(7;18)50H/+ involves: 101/H * C3H/HeH * C57BL/6J MGI:3846775
ht4
 		T(7;18)50H/+ involves: 101/H * C3H/HeH * CBA/H MGI:5497992


Genotype
MGI:3846777
hm1
Allelic
Composition		 T(7;18)50H/T(7;18)50H
Genetic
Background		 involves: 101/H * C3H/HeH
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
T(7;18)50H mutation (1 available); any T(7;18)50H mutation (2 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
reproductive system
multivalent meiotic configurations ( J:23104 )
• chromosomal breakpoints in this reciprocal translocation results in 47% RIV, 47% CIV, and 6% CIII+I




Genotype
MGI:5497990
ht2
Allelic
Composition		 T(7;18)50H/+
Genetic
Background		 involves: 101/H * C3H/HeH
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
T(7;18)50H mutation (1 available); any T(7;18)50H mutation (2 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
mortality/aging
postnatal lethality, incomplete penetrance ( J:3618 )
• 79% of mice with proximal Chr7 paternal duplication survived birth; 89% of normal siblings survived birth
embryonic lethality during organogenesis, incomplete penetrance ( J:3618 )
• maternal duplication of distal Chr7, 7E2 to the telomere, results in mid-gestation lethality
embryonic lethality, complete penetrance ( J:3618 )
• mice with paternal duplication of distal Chr7, 7E2 to the telomere, die during early embryonic development

reproductive system
uniparental disomy ( J:3618 )
• both maternal or paternal duplication of Chr7 segments result from heterozygous matings

growth/size/body
increased growth rate ( J:3618 )
• observerd in chimeras comprising cells with paternal duplication of distal Chr7, 7E2 to the telomere, and wild-type cells
postnatal growth retardation ( J:3618 )
• mice with paternal duplication of proximal Chr7 show slower growth from birth to weaning age

skeleton
abnormal humerus morphology ( J:3618 )
• mice with paternal duplication of proximal Chr 7 have thin and fail humerii
decreased diameter of humerus ( J:3618 )
• found in mice with paternal duplication of proximal Chr7, 7E2 to the centromere
short humerus ( J:3618 )
• observed in mice with paternal duplication of proximal Chr7
abnormal femur morphology ( J:3618 )
• mice with paternal duplication of proximal Chr7, 7E2 to the centromere, have thin and fail femurs
decreased diameter of femur ( J:3618 )
• found in mice with paternal duplication of proximal Chr7, 7E2 to the centromere
short femur ( J:3618 )
• observed in mice with paternal duplication of proximal Chr7
abnormal pelvic girdle bone morphology ( J:3618 )
• found in mice with paternal duplication of proximal Chr7

cellular
maternal imprinting ( J:3618 )
• some offspring produced by intercrossing heterozygotes inherit 2 maternal copies of proximal Chr7, breakpoint 7E2 to the centromere, containing imprinted genes
• some offspring produced by intercrossing heterozygotes inherit 2 maternal copies of distal Chr7, breakpoint 7E2 to the telomere, containing imprinted genes
paternal imprinting ( J:3618 )
• 5.3% of offspring produced by intercrossing heterozygotes inherit 2 paternal copies of proximal Chr7, breakpoint 7E2 to the centromere, containing imprinted genes
• intercrossing heterozygotes also produces offspring that inherit 2 paternal copies of distal Chr7, breakpoint 7E2 to the telomere, containing imprinted genes

limbs/digits/tail
abnormal humerus morphology ( J:3618 )
• mice with paternal duplication of proximal Chr 7 have thin and fail humerii
decreased diameter of humerus ( J:3618 )
• found in mice with paternal duplication of proximal Chr7, 7E2 to the centromere
short humerus ( J:3618 )
• observed in mice with paternal duplication of proximal Chr7
abnormal femur morphology ( J:3618 )
• mice with paternal duplication of proximal Chr7, 7E2 to the centromere, have thin and fail femurs
decreased diameter of femur ( J:3618 )
• found in mice with paternal duplication of proximal Chr7, 7E2 to the centromere
short femur ( J:3618 )
• observed in mice with paternal duplication of proximal Chr7
short tail ( J:3618 )
• mean length is 71 cm for mice with paternal duplication of proximal Chr7 compared to a mean length of 85 cm for normal siblings

Mouse Models of Human Disease
 DO ID OMIM ID(s) Ref(s)
Prader-Willi syndrome DOID:11983 OMIM:176270
 J:3618




Genotype
MGI:3846775
ht3
Allelic
Composition		 T(7;18)50H/+
Genetic
Background		 involves: 101/H * C3H/HeH * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
T(7;18)50H mutation (1 available); any T(7;18)50H mutation (2 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
endocrine/exocrine glands
decreased testis weight ( J:23104 )
• Background Sensitivity: mean testis weights were significantly reduced compared to wild-type males in the presence of C57BL/6 compared to CBA/H alleles
• lowered weight is associated with decreased sperm count

growth/size/body
decreased body weight ( J:23104 )
• body-weights are slightly reduced in translocation carriers compared to wild-type siblings

reproductive system
oligozoospermia ( J:23104 )
• lowered sperm count is not signficant enough to be the reason for decreased fertility
• lowered sperm count is associated with reduction in testis weight
• Background Sensitivity: mean sperm counts for heterozygous males are significantly lower than for wild-type males; substituting CBA/H for C57BL/6J in the background normalizes the sperm count
abnormal sperm head morphology ( J:23104 )
• Background Sensitivity: frequency of sperm-head abnormalities is doubled compared to wild-type; difference was significant only in presence of CBA/H alleles
decreased testis weight ( J:23104 )
• Background Sensitivity: mean testis weights were significantly reduced compared to wild-type males in the presence of C57BL/6 compared to CBA/H alleles
• lowered weight is associated with decreased sperm count
multivalent meiotic configurations ( J:23104 )
• resolve to chromosomally unbalanced gametes and reduced fertility
• Background Sensitivity: decreased frequency of ring configurations are seen compared to mice inheriting strain CBA/H alleles

cellular
oligozoospermia ( J:23104 )
• lowered sperm count is not signficant enough to be the reason for decreased fertility
• lowered sperm count is associated with reduction in testis weight
• Background Sensitivity: mean sperm counts for heterozygous males are significantly lower than for wild-type males; substituting CBA/H for C57BL/6J in the background normalizes the sperm count
abnormal sperm head morphology ( J:23104 )
• Background Sensitivity: frequency of sperm-head abnormalities is doubled compared to wild-type; difference was significant only in presence of CBA/H alleles




Genotype
MGI:5497992
ht4
Allelic
Composition		 T(7;18)50H/+
Genetic
Background		 involves: 101/H * C3H/HeH * CBA/H
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
T(7;18)50H mutation (1 available); any T(7;18)50H mutation (2 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
reproductive system
abnormal sperm head morphology ( J:23104 )
• Background Sensitivity: frequency of sperm-head abnormalities is doubled compared to wild-type; difference was significant only in presence of CBA/H alleles
decreased testis weight ( J:23104 )
• mean testis weights were significantly reduced compared to wild-type males
• lowered weight is associated with decreased sperm count
multivalent meiotic configurations ( J:23104 )
• resolve to chromosomally unbalanced gametes and reduced fertility
• Background Sensitivity: decreased frequency of ring configurations are seen, compared to mice inheriting strain CBA/H alleles
abnormal sperm number ( J:23104 )
• lowered sperm count is not signficant enough to be the reason for decreased fertility
• lowered sperm count is associated with reduction in testis weight
• Background Sensitivity: mean sperm counts for heterozygous males are similar to wild-type males

growth/size/body
decreased body weight ( J:23104 )
• body-weights are slightly reduced in translocation carriers compared to wild-type siblings

endocrine/exocrine glands
decreased testis weight ( J:23104 )
• mean testis weights were significantly reduced compared to wild-type males
• lowered weight is associated with decreased sperm count

cellular
abnormal sperm head morphology ( J:23104 )
• Background Sensitivity: frequency of sperm-head abnormalities is doubled compared to wild-type; difference was significant only in presence of CBA/H alleles




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Send questions and comments to User Support. 		last database update
04/16/2024
MGI 6.23 		The Jackson Laboratory